메뉴 건너뛰기




Volumn , Issue , 2016, Pages 371-398

Genetic factors modifying sickle cell disease severity

Author keywords

Genotype phenotype; GWAS; Hemoglobin F

Indexed keywords


EID: 84978194642     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-319-06713-1_15     Document Type: Chapter
Times cited : (7)

References (174)
  • 1
    • 0032474692 scopus 로고    scopus 로고
    • Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial doppler ultrasonography
    • Adams RJ, Mc Kie VC, Hsu L et al (1998) Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial doppler ultrasonography. N Engl J Med 339(1):5-11
    • (1998) N Engl J Med , vol.339 , Issue.1 , pp. 5-11
    • Adams, R.J.1    Mc, V.C.2    Hsu, L.3
  • 2
    • 33747586761 scopus 로고    scopus 로고
    • Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia
    • Adewoye AH, Nolan VG, Ma Q et al (2006) Association of polymorphisms of IGF1R and genes in the transforming growth factor- beta /bone morphogenetic protein pathway with bacteremia in sickle cell anemia. Clin Infect Dis 43(5):593-598
    • (2006) Clin Infect Dis , vol.43 , Issue.5 , pp. 593-598
    • Adewoye, A.H.1    Nolan, V.G.2    Ma, Q.3
  • 3
    • 0036884534 scopus 로고    scopus 로고
    • Priapism in sickle-cell disease; incidence, risk factors and complications - An international multicentre study
    • Adeyoju AB, Olujohungbe AB, Morris J et al (2002) Priapism in sickle-cell disease; incidence, risk factors and complications - an international multicentre study. BJU Int 90(9):898-902
    • (2002) BJU Int , vol.90 , Issue.9 , pp. 898-902
    • Adeyoju, A.B.1    Olujohungbe, A.B.2    Morris, J.3
  • 4
    • 4143132048 scopus 로고    scopus 로고
    • Are there clinical phenotypes of homozygous sickle cell disease?
    • Alexander N, Higgs D, Dover G, Serjeant GR (2004) Are there clinical phenotypes of homozygous sickle cell disease? Br J Haematol 126(4):606-611
    • (2004) Br J Haematol , vol.126 , Issue.4 , pp. 606-611
    • Alexander, N.1    Higgs, D.2    Dover, G.3    Serjeant, G.R.4
  • 5
    • 84867458482 scopus 로고    scopus 로고
    • The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease
    • Al-Habboubi HH, Mahdi N, Abu-Hijleh TM et al (2012) The relation of vascular endothelial growth factor (VEGF) gene polymorphisms on VEGF levels and the risk of vasoocclusive crisis in sickle cell disease. Eur J Haematol 89(5):403-409
    • (2012) Eur J Haematol , vol.89 , Issue.5 , pp. 403-409
    • Al-Habboubi, H.H.1    Mahdi, N.2    Abu-Hijleh, T.M.3
  • 6
    • 42149175072 scopus 로고    scopus 로고
    • Evidence for HLA class II susceptible and protective haplotypes for osteomyelitis in pediatric patients with sickle cell anemia
    • Al-Ola K, Mahdi N, Al-Subaie AM et al (2008) Evidence for HLA class II susceptible and protective haplotypes for osteomyelitis in pediatric patients with sickle cell anemia. Tissue Antigens 71(5):453-457
    • (2008) Tissue Antigens , vol.71 , Issue.5 , pp. 453-457
    • Al-Ola, K.1    Mahdi, N.2    Al-Subaie, A.M.3
  • 7
    • 79952505965 scopus 로고    scopus 로고
    • The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease
    • Alves Jacob M, da Cunha Bastos C, Regina Bonini-Domingos C (2011) The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease. Arch Med Sci 7(1):97-101
    • (2011) Arch Med Sci , vol.7 , Issue.1 , pp. 97-101
    • Alves Jacob, M.1    Da Cunha Bastos, C.2    Regina Bonini-Domingos, C.3
  • 8
    • 0025781654 scopus 로고
    • Monozygotic twins with sickle cell anemia and discordant clinical courses: Clinical and laboratory studies
    • Amin BR, Bauersachs RM, Meiselman HJ et al (1991) Monozygotic twins with sickle cell anemia and discordant clinical courses: clinical and laboratory studies. Hemoglobin 15(4): 247-256
    • (1991) Hemoglobin , vol.15 , Issue.4 , pp. 247-256
    • Amin, B.R.1    Bauersachs, R.M.2    Meiselman, H.J.3
  • 9
    • 0031825212 scopus 로고    scopus 로고
    • Prothrombin mutant, factor V Leiden, and thermolabile variant of methylenetetrahydrofolate reductase among patients with sickle cell disease in Brazil
    • Andrade FL, Annichino-Bizzacchi JM, Saad ST, Costa FF, Arruda VR (1998) Prothrombin mutant, factor V Leiden, and thermolabile variant of methylenetetrahydrofolate reductase among patients with sickle cell disease in Brazil. Am J Hematol 59(1):46-50
    • (1998) Am J Hematol , vol.59 , Issue.1 , pp. 46-50
    • Andrade, F.L.1    Annichino-Bizzacchi, J.M.2    Saad, S.T.3    Costa, F.F.4    Arruda, V.R.5
  • 10
    • 47049113837 scopus 로고    scopus 로고
    • Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease
    • Ashley-Koch AE, Elliott L, Kail ME et al (2008) Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease. Blood 111(12):5721-5726
    • (2008) Blood , vol.111 , Issue.12 , pp. 5721-5726
    • Ashley-Koch, A.E.1    Elliott, L.2    Kail, M.E.3
  • 11
    • 80053981734 scopus 로고    scopus 로고
    • MYH9 and APOL1 are both associated with sickle cell disease nephropathy
    • Ashley-Koch AE, Okocha EC, Garrett ME et al (2011) MYH9 and APOL1 are both associated with sickle cell disease nephropathy. Br J Haematol 155(3):386-394
    • (2011) Br J Haematol , vol.155 , Issue.3 , pp. 386-394
    • Ashley-Koch, A.E.1    Okocha, E.C.2    Garrett, M.E.3
  • 12
    • 84876206111 scopus 로고    scopus 로고
    • Outcome of cholelithiasis in Sudanese children with Sickle Cell Anaemia (SCA) after 13 years follow-up
    • Attalla BA, Karrar ZA, Ibnouf G et al (2013) Outcome of cholelithiasis in Sudanese children with Sickle Cell Anaemia (SCA) after 13 years follow-up. Afr Health Sci 13(1):154-159
    • (2013) Afr Health Sci , vol.13 , Issue.1 , pp. 154-159
    • Attalla, B.A.1    Karrar, Z.A.2    Ibnouf, G.3
  • 13
    • 80355125807 scopus 로고    scopus 로고
    • Variants in genetic modifiers of beta-thalassemia can help to predict the major or intermedia type of the disease
    • Badens C, Joly P, Agouti I et al (2011) Variants in genetic modifiers of beta-thalassemia can help to predict the major or intermedia type of the disease. Haematologica 96(11):1712-1714
    • (2011) Haematologica , vol.96 , Issue.11 , pp. 1712-1714
    • Badens, C.1    Joly, P.2    Agouti, I.3
  • 14
    • 84865714645 scopus 로고    scopus 로고
    • Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans
    • Bae HT, Baldwin CT, Sebastiani P et al (2012) Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans. Blood 120(9):1961-1962
    • (2012) Blood , vol.120 , Issue.9 , pp. 1961-1962
    • Bae, H.T.1    Baldwin, C.T.2    Sebastiani, P.3
  • 15
    • 22044456541 scopus 로고    scopus 로고
    • Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis
    • Baldwin C, Nolan VG, Wyszynski DF et al (2005) Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis. Blood 106(1):372-375
    • (2005) Blood , vol.106 , Issue.1 , pp. 372-375
    • Baldwin, C.1    Nolan, V.G.2    Wyszynski, D.F.3
  • 16
    • 0035087188 scopus 로고    scopus 로고
    • Effect of alpha-globin genotype on the pathophysiology of sickle cell disease
    • Ballas SK (2001) Effect of alpha-globin genotype on the pathophysiology of sickle cell disease. Pediatr Pathol Mol Med 20(2):107-121
    • (2001) Pediatr Pathol Mol Med , vol.20 , Issue.2 , pp. 107-121
    • Ballas, S.K.1
  • 17
  • 18
    • 84864988793 scopus 로고    scopus 로고
    • Beyond the definitions of the phenotypic complications of sickle cell disease: An update on management
    • Ballas SK, Kesen MR, Goldberg MF et al (2012) Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management. ScientificWorldJournal 2012:949535
    • (2012) Scientificworldjournal , pp. 2012
    • Ballas, S.K.1    Kesen, M.R.2    Goldberg, M.F.3
  • 19
    • 80054746492 scopus 로고    scopus 로고
    • Exome sequencing as a tool for Mendelian disease gene discovery
    • Bamshad MJ, Ng SB, Bigham AW et al (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12(11):745-755
    • (2011) Nat Rev Genet , vol.12 , Issue.11 , pp. 745-755
    • Bamshad, M.J.1    Ng, S.B.2    Bigham, A.W.3
  • 20
    • 84885620722 scopus 로고    scopus 로고
    • An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level
    • Bauer DE, Kamran SC, Lessard S et al (2013) An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 342(6155):253-257
    • (2013) Science , vol.342 , Issue.6155 , pp. 253-257
    • Bauer, D.E.1    Kamran, S.C.2    Lessard, S.3
  • 21
    • 84868583137 scopus 로고    scopus 로고
    • Heme oxygenase-1 gene promoter polymorphism is associated with reduced incidence of acute chest syndrome among children with sickle cell disease
    • Bean CJ, Boulet SL, Ellingsen D et al (2012) Heme oxygenase-1 gene promoter polymorphism is associated with reduced incidence of acute chest syndrome among children with sickle cell disease. Blood 120(18):3822-3828
    • (2012) Blood , vol.120 , Issue.18 , pp. 3822-3828
    • Bean, C.J.1    Boulet, S.L.2    Ellingsen, D.3
  • 22
    • 77954423200 scopus 로고    scopus 로고
    • Prevalence and clinical correlates of microalbuminuria in children with sickle cell disease
    • Becton LJ, Kalpatthi RV, Rackoff E et al (2010) Prevalence and clinical correlates of microalbuminuria in children with sickle cell disease. Pediatr Nephrol 25(8):1505-1511
    • (2010) Pediatr Nephrol , vol.25 , Issue.8 , pp. 1505-1511
    • Becton, L.J.1    Kalpatthi, R.V.2    Rackoff, E.3
  • 23
    • 84926675673 scopus 로고    scopus 로고
    • Association of alpha-thalassemia, TNF-alpha (-308G>A) and VCAM-1 (c.1238G>C) gene polymorphisms with cerebrovascular disease in a newborn cohort of 411 children with sickle cell anemia
    • Belisario AR, Nogueira FL, Rodrigues RS et al (2015) Association of alpha-thalassemia, TNF-alpha (-308G>A) and VCAM-1 (c.1238G>C) gene polymorphisms with cerebrovascular disease in a newborn cohort of 411 children with sickle cell anemia. Blood Cells Mol Dis 54(1):44-50
    • (2015) Blood Cells Mol Dis , vol.54 , Issue.1 , pp. 44-50
    • Belisario, A.R.1    Nogueira, F.L.2    Rodrigues, R.S.3
  • 24
    • 58149143300 scopus 로고    scopus 로고
    • G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia
    • Bernaudin F, Verlhac S, Chevret S et al (2008) G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia. Blood 112(10):4314-4317
    • (2008) Blood , vol.112 , Issue.10 , pp. 4314-4317
    • Bernaudin, F.1    Verlhac, S.2    Chevret, S.3
  • 25
    • 79955518530 scopus 로고    scopus 로고
    • Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients
    • Bhatnagar P, Purvis S, Barron-Casella E et al (2011) Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. J Hum Genet 56(4):316-323
    • (2011) J Hum Genet , vol.56 , Issue.4 , pp. 316-323
    • Bhatnagar, P.1    Purvis, S.2    Barron-Casella, E.3
  • 26
    • 78649452404 scopus 로고    scopus 로고
    • C-Myb supports erythropoiesis through the transactivation of KLF1 and LMO2 expression
    • Bianchi E, Zini R, Salati S et al (2010) c-Myb supports erythropoiesis through the transactivation of KLF1 and LMO2 expression. Blood 116(22):e99-e110
    • (2010) Blood , vol.116 , Issue.22
    • Bianchi, E.1    Zini, R.2    Salati, S.3
  • 27
    • 77956533115 scopus 로고    scopus 로고
    • Screening student athletes for sickle cell trait--a social and clinical experiment
    • Bonham VL, Dover GJ, Brody LC (2010) Screening student athletes for sickle cell trait--a social and clinical experiment. N Engl J Med 363(11):997-999
    • (2010) N Engl J Med , vol.363 , Issue.11 , pp. 997-999
    • Bonham, V.L.1    Dover, G.J.2    Brody, L.C.3
  • 28
    • 77956622584 scopus 로고    scopus 로고
    • Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
    • Borg J, Papadopoulos P, Georgitsi M et al (2010) Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet 42(9):801-805
    • (2010) Nat Genet , vol.42 , Issue.9 , pp. 801-805
    • Borg, J.1    Papadopoulos, P.2    Georgitsi, M.3
  • 29
  • 30
    • 0031878782 scopus 로고    scopus 로고
    • Glucose-6-phosphate dehydrogenase deficiency and homozygous sickle cell disease in Congo
    • Bouanga JC, Mouele R, Prehu C et al (1998) Glucose-6-phosphate dehydrogenase deficiency and homozygous sickle cell disease in Congo. Hum Hered 48(4):192-197
    • (1998) Hum Hered , vol.48 , Issue.4 , pp. 192-197
    • Bouanga, J.C.1    Mouele, R.2    Prehu, C.3
  • 32
    • 80053329221 scopus 로고    scopus 로고
    • TNF-alpha and IL-8: Serum levels and gene polymorphisms (-308G>A and -251A>T) are associated with classical biomarkers and medical history in children with sickle cell anemia
    • Cajado C, Cerqueira BA, Couto FD et al (2011) TNF-alpha and IL-8: serum levels and gene polymorphisms (-308G>A and -251A>T) are associated with classical biomarkers and medical history in children with sickle cell anemia. Cytokine 56(2):312-317
    • (2011) Cytokine , vol.56 , Issue.2 , pp. 312-317
    • Cajado, C.1    Cerqueira, B.A.2    Couto, F.D.3
  • 33
    • 0037186459 scopus 로고    scopus 로고
    • Identification of novel inhibitors of the transforming growth factor beta1 (TGF-beta1) type 1 receptor (ALK5)
    • Callahan JF, Burgess JL, Fornwald JA et al (2002) Identification of novel inhibitors of the transforming growth factor beta1 (TGF-beta1) type 1 receptor (ALK5). J Med Chem 45(5): 999-1001
    • (2002) J Med Chem , vol.45 , Issue.5 , pp. 999-1001
    • Callahan, J.F.1    Burgess, J.L.2    Fornwald, J.A.3
  • 34
    • 4644252441 scopus 로고    scopus 로고
    • Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia
    • Castro V, Alberto FL, Costa RN et al (2004) Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia. Vox Sang 87(2):118-123
    • (2004) Vox Sang , vol.87 , Issue.2 , pp. 118-123
    • Castro, V.1    Alberto, F.L.2    Costa, R.N.3
  • 35
    • 70349337710 scopus 로고    scopus 로고
    • HLA-G polymorphism influences the susceptibility to HCV infection in sickle cell disease patients
    • Cordero EA, Veit TD, da Silva MA et al (2009) HLA-G polymorphism influences the susceptibility to HCV infection in sickle cell disease patients. Tissue Antigens 74(4):308-313
    • (2009) Tissue Antigens , vol.74 , Issue.4 , pp. 308-313
    • Cordero, E.A.1    Veit, T.D.2    Da Silva, M.A.3
  • 36
    • 22544481795 scopus 로고    scopus 로고
    • Association of the G-463A myeloperoxidase polymorphism with infection in sickle cell anemia
    • Costa RN, Conran N, Albuquerque DM et al (2005) Association of the G-463A myeloperoxidase polymorphism with infection in sickle cell anemia. Haematologica 90(7):977-979
    • (2005) Haematologica , vol.90 , Issue.7 , pp. 977-979
    • Costa, R.N.1    Conran, N.2    Albuquerque, D.M.3
  • 37
    • 84900469368 scopus 로고    scopus 로고
    • Haptoglobin, alpha-thalassaemia and glucose-6-phosphate dehydrogenase polymorphisms and risk of abnormal transcranial Doppler among patients with sickle cell anaemia in Tanzania
    • Cox SE, Makani J, Soka D et al (2014) Haptoglobin, alpha-thalassaemia and glucose-6-phosphate dehydrogenase polymorphisms and risk of abnormal transcranial Doppler among patients with sickle cell anaemia in Tanzania. Br J Haematol 165(5):699-706
    • (2014) Br J Haematol , vol.165 , Issue.5 , pp. 699-706
    • Cox, S.E.1    Makani, J.2    Soka, D.3
  • 38
    • 0030065604 scopus 로고    scopus 로고
    • Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach
    • Craig JE, Rochette J, Fisher CA et al (1996) Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Nat Genet 12(1):58-64
    • (1996) Nat Genet , vol.12 , Issue.1 , pp. 58-64
    • Craig, J.E.1    Rochette, J.2    Fisher, C.A.3
  • 39
    • 33845916950 scopus 로고    scopus 로고
    • Asymptomatic cholelithiasis in children with sickle cell disease: Early or delayed cholecystectomy?
    • Curro G, Meo A, Ippolito D, Pusiol A, Cucinotta E (2007) Asymptomatic cholelithiasis in children with sickle cell disease: early or delayed cholecystectomy? Ann Surg 245(1):126-129
    • (2007) Ann Surg , vol.245 , Issue.1 , pp. 126-129
    • Curro, G.1    Meo, A.2    Ippolito, D.3    Pusiol, A.4    Cucinotta, E.5
  • 40
    • 6944253454 scopus 로고    scopus 로고
    • Physical and cognitive-behavioral activities used in the home management of sickle pain: A daily diary study in children and adolescents
    • Dampier C, Ely E, Eggleston B, Brodecki D, O’Neal P (2004) Physical and cognitive-behavioral activities used in the home management of sickle pain: a daily diary study in children and adolescents. Pediatr Blood Cancer 43(6):674-678
    • (2004) Pediatr Blood Cancer , vol.43 , Issue.6 , pp. 674-678
    • Dampier, C.1    Ely, E.2    Eggleston, B.3    Brodecki, D.4    O’ Neal, P.5
  • 41
    • 84856503066 scopus 로고    scopus 로고
    • Association between hemolysis and albuminuria in adults with sickle cell anemia
    • Day TG, Drasar ER, Fulford T, Sharpe CC, Thein SL (2012) Association between hemolysis and albuminuria in adults with sickle cell anemia. Haematologica 97(2):201-205
    • (2012) Haematologica , vol.97 , Issue.2 , pp. 201-205
    • Day, T.G.1    Drasar, E.R.2    Fulford, T.3    Sharpe, C.C.4    Thein, S.L.5
  • 42
    • 0008435402 scopus 로고    scopus 로고
    • Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis
    • del Giudice EM, Perrotta S, Nobili B et al (1999) Coinheritance of Gilbert syndrome increases the risk for developing gallstones in patients with hereditary spherocytosis. Blood 94(7): 2259-2262
    • (1999) Blood , vol.94 , Issue.7 , pp. 2259-2262
    • Del Giudice, E.M.1    Perrotta, S.2    Nobili, B.3
  • 43
    • 66949125341 scopus 로고    scopus 로고
    • Effects of RANTES and MBL2 gene polymorphisms in sickle cell disease clinical outcomes: Association of the g.In1.1T>C RANTES variant with protection against infections
    • Dossou-Yovo OP, Zaccaria I, Benkerrou M et al (2009) Effects of RANTES and MBL2 gene polymorphisms in sickle cell disease clinical outcomes: association of the g.In1.1T>C RANTES variant with protection against infections. Am J Hematol 84(6):378-380
    • (2009) Am J Hematol , vol.84 , Issue.6 , pp. 378-380
    • Dossou-Yovo, O.P.1    Zaccaria, I.2    Benkerrou, M.3
  • 44
    • 84880969948 scopus 로고    scopus 로고
    • The effect of Duffy antigen receptor for chemo-kines on severity in sickle cell disease
    • Drasar ER, Menzel S, Fulford T, Thein SL (2013) The effect of Duffy antigen receptor for chemo-kines on severity in sickle cell disease. Haematologica 98(8):e87-e89
    • (2013) Haematologica , vol.98 , Issue.8 , pp. e87-e89
    • Drasar, E.R.1    Menzel, S.2    Fulford, T.3    Thein, S.L.4
  • 45
    • 0037443399 scopus 로고    scopus 로고
    • Stroke risk in siblings with sickle cell anemia
    • Driscoll MC, Hurlet A, Styles L et al (2003) Stroke risk in siblings with sickle cell anemia. Blood 101(6):2401-2404
    • (2003) Blood , vol.101 , Issue.6 , pp. 2401-2404
    • Driscoll, M.C.1    Hurlet, A.2    Styles, L.3
  • 46
    • 0026643316 scopus 로고
    • Clinical and haematological diversity of sickle cell disease in Saudi children
    • El-Hazmi MA (1992) Clinical and haematological diversity of sickle cell disease in Saudi children. J Trop Pediatr 38(3):106-112
    • (1992) J Trop Pediatr , vol.38 , Issue.3 , pp. 106-112
    • El-Hazmi, M.A.1
  • 47
    • 34047205100 scopus 로고    scopus 로고
    • Genetic polymorphisms associated with priapism in sickle cell disease
    • Elliott L, Ashley-Koch AE, De Castro L et al (2007) Genetic polymorphisms associated with priapism in sickle cell disease. Br J Haematol 137(3):262-267
    • (2007) Br J Haematol , vol.137 , Issue.3 , pp. 262-267
    • Elliott, L.1    Ashley-Koch, A.E.2    De Castro, L.3
  • 48
    • 0020081165 scopus 로고
    • Concurrent sickle-cell anemia and alpha-thalassemia: Effect on severity of anemia
    • Embury SH, Dozy AM, Miller J et al (1982) Concurrent sickle-cell anemia and alpha-thalassemia: effect on severity of anemia. N Engl J Med 306(5):270-274
    • (1982) N Engl J Med , vol.306 , Issue.5 , pp. 270-274
    • Embury, S.H.1    Dozy, A.M.2    Miller, J.3
  • 50
    • 84878383486 scopus 로고    scopus 로고
    • Erythropoiesis and globin switching in compound Klf1::Bcl11a mutant mice
    • Esteghamat F, Gillemans N, Bilic I et al (2013) Erythropoiesis and globin switching in compound Klf1::Bcl11a mutant mice. Blood 121(13):2553-2562
    • (2013) Blood , vol.121 , Issue.13 , pp. 2553-2562
    • Esteghamat, F.1    Gillemans, N.2    Bilic, I.3
  • 51
    • 79955977896 scopus 로고    scopus 로고
    • A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
    • Farrell JJ, Sherva RM, Chen ZY et al (2011) A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood 117(18):4935-4945
    • (2011) Blood , vol.117 , Issue.18 , pp. 4935-4945
    • Farrell, J.J.1    Sherva, R.M.2    Chen, Z.Y.3
  • 52
    • 0043133530 scopus 로고    scopus 로고
    • UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia
    • Fertrin KY, Melo MB, Assis AM, Saad ST, Costa FF (2003) UDP-glucuronosyltransferase 1 gene promoter polymorphism is associated with increased serum bilirubin levels and cholecystectomy in patients with sickle cell anemia. Clin Genet 64(2):160-162
    • (2003) Clin Genet , vol.64 , Issue.2 , pp. 160-162
    • Fertrin, K.Y.1    Melo, M.B.2    Assis, A.M.3    Saad, S.T.4    Costa, F.F.5
  • 53
    • 0029861312 scopus 로고    scopus 로고
    • Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil
    • Figueiredo MS, Kerbauy J, Goncalves MS et al (1996) Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil. Am J Hematol 53(2):72-76
    • (1996) Am J Hematol , vol.53 , Issue.2 , pp. 72-76
    • Figueiredo, M.S.1    Kerbauy, J.2    Goncalves, M.S.3
  • 54
    • 79959278268 scopus 로고    scopus 로고
    • Genetic predictors for stroke in children with sickle cell anemia
    • Flanagan JM, Frohlich DM, Howard TA et al (2011) Genetic predictors for stroke in children with sickle cell anemia. Blood 117(24):6681-6684
    • (2011) Blood , vol.117 , Issue.24 , pp. 6681-6684
    • Flanagan, J.M.1    Frohlich, D.M.2    Howard, T.A.3
  • 55
    • 84879130688 scopus 로고    scopus 로고
    • Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia
    • Flanagan JM, Sheehan V, Linder H et al (2013) Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia. Blood 121(16):3237-3245
    • (2013) Blood , vol.121 , Issue.16 , pp. 3237-3245
    • Flanagan, J.M.1    Sheehan, V.2    Linder, H.3
  • 56
    • 0035676442 scopus 로고    scopus 로고
    • Cholelithiasis and Gilbert’s syndrome in homozygous beta-thalassaemia
    • Galanello R, Piras S, Barella S et al (2001) Cholelithiasis and Gilbert’s syndrome in homozygous beta-thalassaemia. Br J Haematol 115(4):926-928
    • (2001) Br J Haematol , vol.115 , Issue.4 , pp. 926-928
    • Galanello, R.1    Piras, S.2    Barella, S.3
  • 57
    • 70449719115 scopus 로고    scopus 로고
    • Amelioration of Sardinian beta-zero thalassemia by genetic modifiers
    • Galanello R, Sanna S, Perseu L et al (2009) Amelioration of Sardinian beta-zero thalassemia by genetic modifiers. Blood 114(18):3935-3937
    • (2009) Blood , vol.114 , Issue.18 , pp. 3935-3937
    • Galanello, R.1    Sanna, S.2    Perseu, L.3
  • 58
    • 78649469071 scopus 로고    scopus 로고
    • Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation
    • Galarneau G, Palmer CD, Sankaran VG et al (2010) Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet 40(12):1049-1051
    • (2010) Nat Genet , vol.40 , Issue.12 , pp. 1049-1051
    • Galarneau, G.1    Palmer, C.D.2    Sankaran, V.G.3
  • 59
    • 84884621782 scopus 로고    scopus 로고
    • Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients
    • Galarneau G, Coady S, Garrett ME et al (2013) Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients. Blood 122(3):434-442
    • (2013) Blood , vol.122 , Issue.3 , pp. 434-442
    • Galarneau, G.1    Coady, S.2    Garrett, M.E.3
  • 60
    • 0033966370 scopus 로고    scopus 로고
    • Genetic influences on F cells and other hematologic variables: A twin heritability study
    • Garner C, Tatu T, Reittie JE et al (2000) Genetic influences on F cells and other hematologic variables: a twin heritability study. Blood 95(1):342-346
    • (2000) Blood , vol.95 , Issue.1 , pp. 342-346
    • Garner, C.1    Tatu, T.2    Reittie, J.E.3
  • 61
    • 77955646179 scopus 로고    scopus 로고
    • Association of trypanolytic ApoL1 variants with kidney disease in African Americans
    • Genovese G, Friedman DJ, Ross MD et al (2010) Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science 329(5993):841-845
    • (2010) Science , vol.329 , Issue.5993 , pp. 841-845
    • Genovese, G.1    Friedman, D.J.2    Ross, M.D.3
  • 62
    • 10744233940 scopus 로고    scopus 로고
    • Pulmonary hypertension as a risk factor for death in patients with sickle cell disease
    • Gladwin MT, Sachdev V, Jison ML et al (2004) Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med 350(9):886-895
    • (2004) N Engl J Med , vol.350 , Issue.9 , pp. 886-895
    • Gladwin, M.T.1    Sachdev, V.2    Jison, M.L.3
  • 63
    • 0004964584 scopus 로고
    • The structure of human hemoglobin. VI. The sequence of amino acids in the tryptic peptides of the beta chain
    • Goldstein J, Konigsberg W, Hill RJ (1963) The structure of human hemoglobin. VI. The sequence of amino acids in the tryptic peptides of the beta chain. J Biol Chem 238:2016-2027
    • (1963) J Biol Chem , vol.238 , pp. 2016-2027
    • Goldstein, J.1    Konigsberg, W.2    Hill, R.J.3
  • 64
    • 84873589744 scopus 로고    scopus 로고
    • Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea
    • Green NS, Ender KL, Pashankar F et al (2013) Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea. PLoS One 8(2):e55709
    • (2013) Plos One , vol.8 , Issue.2
    • Green, N.S.1    Ender, K.L.2    Pashankar, F.3
  • 65
    • 0037388172 scopus 로고    scopus 로고
    • UGT1A promoter polymorphisms influence bilirubin response to hydroxyurea therapy in sickle cell anemia
    • Heeney MM, Howard TA, Zimmerman SA, Ware RE (2003) UGT1A promoter polymorphisms influence bilirubin response to hydroxyurea therapy in sickle cell anemia. J Lab Clin Med 141(4):279-282
    • (2003) J Lab Clin Med , vol.141 , Issue.4 , pp. 279-282
    • Heeney, M.M.1    Howard, T.A.2    Zimmerman, S.A.3    Ware, R.E.4
  • 66
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6(2):95-108
    • (2005) Nat Rev Genet , vol.6 , Issue.2 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 67
    • 0038107362 scopus 로고    scopus 로고
    • Distinct HLA associations by stroke subtype in children with sickle cell anemia
    • Hoppe C, Klitz W, Noble J et al (2003) Distinct HLA associations by stroke subtype in children with sickle cell anemia. Blood 101(7):2865-2869
    • (2003) Blood , vol.101 , Issue.7 , pp. 2865-2869
    • Hoppe, C.1    Klitz, W.2    Noble, J.3
  • 68
    • 1542283710 scopus 로고    scopus 로고
    • Gene interactions and stroke risk in children with sickle cell anemia
    • Hoppe C, Klitz W, Cheng S et al (2004) Gene interactions and stroke risk in children with sickle cell anemia. Blood 103(6):2391-2396
    • (2004) Blood , vol.103 , Issue.6 , pp. 2391-2396
    • Hoppe, C.1    Klitz, W.2    Cheng, S.3
  • 70
    • 1842337282 scopus 로고
    • Gene mutations in human haemoglobin: The chemical difference between normal and sickle cell haemoglobin
    • Ingram VM (1957) Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. Nature 180(4581):326-328
    • (1957) Nature , vol.180 , Issue.4581 , pp. 326-328
    • Ingram, V.M.1
  • 71
    • 77955271206 scopus 로고    scopus 로고
    • Binding patterns of BCL11A in the globin and GATA1 loci and characterization of the BCL11A fetal hemoglobin locus
    • Jawaid K, Wahlberg K, Thein SL, Best S (2010) Binding patterns of BCL11A in the globin and GATA1 loci and characterization of the BCL11A fetal hemoglobin locus. Blood Cells Mol Dis 45(2):140-146
    • (2010) Blood Cells Mol Dis , vol.45 , Issue.2 , pp. 140-146
    • Jawaid, K.1    Wahlberg, K.2    Thein, S.L.3    Best, S.4
  • 72
    • 33746632097 scopus 로고    scopus 로고
    • CMYB is involved in the regulation of fetal hemoglobin production in adults
    • Jiang J, Best S, Menzel S et al (2006) cMYB is involved in the regulation of fetal hemoglobin production in adults. Blood 108(3):1077-1083
    • (2006) Blood , vol.108 , Issue.3 , pp. 1077-1083
    • Jiang, J.1    Best, S.2    Menzel, S.3
  • 73
    • 0017253381 scopus 로고
    • Sickle b-thalassemia: Identical twins differing in severity implicate nongenetic factors influencing course
    • Joishy SK, Griner PF, Rowley PT (1976) Sickle b-thalassemia: identical twins differing in severity implicate nongenetic factors influencing course. Am J Hematol 1(1):23-33
    • (1976) Am J Hematol , vol.1 , Issue.1 , pp. 23-33
    • Joishy, S.K.1    Griner, P.F.2    Rowley, P.T.3
  • 74
    • 0034944343 scopus 로고    scopus 로고
    • The methylene tetrahydrofolate reductase (C677T) mutation as a potential risk factor for avascular necrosis in sickle cell disease
    • Kutlar A, Kutlar F, Turker I, Tural C (2001) The methylene tetrahydrofolate reductase (C677T) mutation as a potential risk factor for avascular necrosis in sickle cell disease. Hemoglobin 25(2):213-217
    • (2001) Hemoglobin , vol.25 , Issue.2 , pp. 213-217
    • Kutlar, A.1    Kutlar, F.2    Turker, I.3    Tural, C.4
  • 75
    • 0346497365 scopus 로고
    • Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients
    • Labie D, Pagnier J, Lapoumeroulie C et al (1985) Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients. Proc Natl Acad Sci U S A 82(7):2111-2114
    • (1985) Proc Natl Acad Sci U S A , vol.82 , Issue.7 , pp. 2111-2114
    • Labie, D.1    Pagnier, J.2    Lapoumeroulie, C.3
  • 76
    • 50149117726 scopus 로고    scopus 로고
    • DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease
    • Lettre G, Sankaran VG, Bezerra MA et al (2008) DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A 105(33):11869-11874
    • (2008) Proc Natl Acad Sci U S A , vol.105 , Issue.33 , pp. 11869-11874
    • Lettre, G.1    Sankaran, V.G.2    Bezerra, M.A.3
  • 77
    • 0035163071 scopus 로고    scopus 로고
    • BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
    • Machado RD, Pauciulo MW, Thomson JR et al (2001) BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. Am J Hum Genet 68(1):92-102
    • (2001) Am J Hum Genet , vol.68 , Issue.1 , pp. 92-102
    • Machado, R.D.1    Pauciulo, M.W.2    Thomson, J.R.3
  • 78
    • 84927663453 scopus 로고    scopus 로고
    • KLF1 null neonates display hydrops fetalis and a deranged erythroid transcriptome
    • Magor GW, Tallack MR, Gillinder KR et al (2015) KLF1 null neonates display hydrops fetalis and a deranged erythroid transcriptome. Blood 125:2405-2417
    • (2015) Blood , vol.125 , pp. 2405-2417
    • Magor, G.W.1    Tallack, M.R.2    Gillinder, K.R.3
  • 79
    • 78649444537 scopus 로고    scopus 로고
    • Strong association between a new marker of hemolysis and glomerulopathy in sickle cell anemia
    • Maier-Redelsperger M, Levy P, Lionnet F et al (2010) Strong association between a new marker of hemolysis and glomerulopathy in sickle cell anemia. Blood Cells Mol Dis 45(4):289-292
    • (2010) Blood Cells Mol Dis , vol.45 , Issue.4 , pp. 289-292
    • Maier-Redelsperger, M.1    Levy, P.2    Lionnet, F.3
  • 80
    • 79251553442 scopus 로고    scopus 로고
    • Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia
    • Makani J, Menzel S, Nkya S et al (2011) Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. Blood 117(4):1390-1392
    • (2011) Blood , vol.117 , Issue.4 , pp. 1390-1392
    • Makani, J.1    Menzel, S.2    Nkya, S.3
  • 81
    • 84880920122 scopus 로고    scopus 로고
    • Bringing genome-wide association findings into clinical use
    • Manolio TA (2013) Bringing genome-wide association findings into clinical use. Nat Rev Genet 14(8):549-558
    • (2013) Nat Rev Genet , vol.14 , Issue.8 , pp. 549-558
    • Manolio, T.A.1
  • 82
    • 77950300877 scopus 로고    scopus 로고
    • Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia
    • Mendonga TF, Oliveira MC, Vasconcelos LR et al (2010) Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia. Blood Cells Mol Dis 44(4): 224-228
    • (2010) Blood Cells Mol Dis , vol.44 , Issue.4 , pp. 224-228
    • Mendonga, T.F.1    Oliveira, M.C.2    Vasconcelos, L.R.3
  • 83
    • 34748864128 scopus 로고    scopus 로고
    • A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
    • Menzel S, Garner C, Gut I et al (2007a) A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet 39(10):1197-1199
    • (2007) Nat Genet , vol.39 , Issue.10 , pp. 1197-1199
    • Menzel, S.1    Garner, C.2    Gut, I.3
  • 84
    • 36348999843 scopus 로고    scopus 로고
    • The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans
    • Menzel S, Jiang J, Silver N et al (2007b) The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. Blood 110(10): 3624-3626
    • (2007) Blood , vol.110 , Issue.10 , pp. 3624-3626
    • Menzel, S.1    Jiang, J.2    Silver, N.3
  • 85
    • 84870857735 scopus 로고    scopus 로고
    • HbA2 levels in normal adults are influenced by two distinct genetic mechanisms
    • Menzel S, Garner C, Rooks H, Spector TD, Thein SL (2013) HbA2 levels in normal adults are influenced by two distinct genetic mechanisms. Br J Haematol 160(1):101-105
    • (2013) Br J Haematol , vol.160 , Issue.1 , pp. 101-105
    • Menzel, S.1    Garner, C.2    Rooks, H.3    Spector, T.D.4    Thein, S.L.5
  • 86
    • 84908256845 scopus 로고    scopus 로고
    • Global genetic architecture of an erythroid quantitative trait locus, HMIP-2
    • Menzel S, Rooks H, Zelenika D et al (2014) Global genetic architecture of an erythroid quantitative trait locus, HMIP-2. Ann Hum Genet 78:434-451
    • (2014) Ann Hum Genet , vol.78 , pp. 434-451
    • Menzel, S.1    Rooks, H.2    Zelenika, D.3
  • 87
    • 0027211845 scopus 로고
    • A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the KrUppel family of nuclear proteins
    • Miller IJ, Bieker JJ (1993) A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the KrUppel family of nuclear proteins. Mol Cell Biol 13(5):2776-2786
    • (1993) Mol Cell Biol , vol.13 , Issue.5 , pp. 2776-2786
    • Miller, I.J.1    Bieker, J.J.2
  • 88
    • 0034642592 scopus 로고    scopus 로고
    • Prediction of adverse outcomes in children with sickle cell disease
    • Miller ST, Sleeper LA, Pegelow CH et al (2000) Prediction of adverse outcomes in children with sickle cell disease. N Engl J Med 342(2):83-89
    • (2000) N Engl J Med , vol.342 , Issue.2 , pp. 83-89
    • Miller, S.T.1    Sleeper, L.A.2    Pegelow, C.H.3
  • 89
    • 84860458015 scopus 로고    scopus 로고
    • A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia
    • Milton JN, Sebastiani P, Solovieff N et al (2012) A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. PLoS One 7(4):e34741
    • (2012) Plos One , vol.7 , Issue.4
    • Milton, J.N.1    Sebastiani, P.2    Solovieff, N.3
  • 90
    • 84910681449 scopus 로고    scopus 로고
    • Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania
    • Mtatiro SN, Singh T, Rooks H et al (2014) Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania. PLoS One 9(11):e111464
    • (2014) Plos One , vol.9 , Issue.11
    • Mtatiro, S.N.1    Singh, T.2    Rooks, H.3
  • 91
    • 0022001839 scopus 로고
    • Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type
    • Nagel RL, Fabry ME, Pagnier J et al (1985) Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. N Engl J Med 312(14):880-884
    • (1985) N Engl J Med , vol.312 , Issue.14 , pp. 880-884
    • Nagel, R.L.1    Fabry, M.E.2    Pagnier, J.3
  • 92
    • 0023265737 scopus 로고
    • The hematologic characteristics of sickle cell anemia bearing the Bantu haplotype: The relationship between Gg and Hb F level
    • Gg and Hb F level. Blood 69:1026-1030
    • (1987) Blood , vol.69 , pp. 1026-1030
    • Nagel, R.L.1    Rao, S.K.2    Dunda-Belkhodja, O.3
  • 93
    • 0025729733 scopus 로고
    • The Senegal DNA haplotype is associated with the amelioration of anemia in African-American sickle cell anemia patients
    • Nagel RL, Erlingsson S, Fabry ME et al (1991) The Senegal DNA haplotype is associated with the amelioration of anemia in African-American sickle cell anemia patients. Blood 77: 1371-1375
    • (1991) Blood , vol.77 , pp. 1371-1375
    • Nagel, R.L.1    Erlingsson, S.2    Fabry, M.E.3
  • 94
    • 84923776133 scopus 로고    scopus 로고
    • Sickle cell disease: Renal manifestations and mechanisms
    • Nath KA, Hebbel RP (2015) Sickle cell disease: renal manifestations and mechanisms. Nat Rev Nephrol 11(3):161-171
    • (2015) Nat Rev Nephrol , vol.11 , Issue.3 , pp. 161-171
    • Nath, K.A.1    Hebbel, R.P.2
  • 95
    • 84920841482 scopus 로고    scopus 로고
    • NIH Expert Panel Report
    • National Institutes of Health: National Heart Lung and Blood Institute (2014) Evidence-based management of sickle cell disease NIH Expert Panel Report
    • (2014) Evidence-Based Management of Sickle Cell Disease
  • 96
    • 77955282543 scopus 로고    scopus 로고
    • Alpha-thalassemia is associated with a decreased occurrence and a delayed age-at-onset of albuminuria in sickle cell anemia patients
    • Nebor D, Broquere C, Brudey K et al (2010a) Alpha-thalassemia is associated with a decreased occurrence and a delayed age-at-onset of albuminuria in sickle cell anemia patients. Blood Cells Mol Dis 45(2):154-158
    • (2010) Blood Cells Mol Dis , vol.45 , Issue.2 , pp. 154-158
    • Nebor, D.1    Broquere, C.2    Brudey, K.3
  • 97
    • 77953290928 scopus 로고    scopus 로고
    • Association between Duffy antigen receptor for chemokines expression and levels of inflammation markers in sickle cell anemia patients
    • Nebor D, Durpes MC, Mougenel D et al (2010b) Association between Duffy antigen receptor for chemokines expression and levels of inflammation markers in sickle cell anemia patients. Clin Immunol 136(1):116-122
    • (2010) Clin Immunol , vol.136 , Issue.1 , pp. 116-122
    • Nebor, D.1    Durpes, M.C.2    Mougenel, D.3
  • 98
    • 0032829849 scopus 로고    scopus 로고
    • Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: Identification of three new variant alleles and relationship to infections
    • Neonato MG, Lu CY, Guilloud-Bataille M et al (1999) Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections. Eur J Hum Genet 7(6):679-686
    • (1999) Eur J Hum Genet , vol.7 , Issue.6 , pp. 679-686
    • Neonato, M.G.1    Lu, C.Y.2    Guilloud-Bataille, M.3
  • 99
    • 84890907794 scopus 로고    scopus 로고
    • Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India
    • Nishank SS, Singh MP, Yadav R et al (2013) Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India. J Hum Genet 58(12):775-779
    • (2013) J Hum Genet , vol.58 , Issue.12 , pp. 775-779
    • Nishank, S.S.1    Singh, M.P.2    Yadav, R.3
  • 100
    • 0021045875 scopus 로고
    • Intracellular polymerization of sickle hemoglobin. Effects of cell heterogeneity
    • Noguchi CT, Torchia DA, Schechter AN (1983) Intracellular polymerization of sickle hemoglobin. Effects of cell heterogeneity. J Clin Invest 72(3):846-852
    • (1983) J Clin Invest , vol.72 , Issue.3 , pp. 846-852
    • Noguchi, C.T.1    Torchia, D.A.2    Schechter, A.N.3
  • 101
    • 0023859033 scopus 로고
    • Levels of fetal hemoglobin necessary for treatment of sickle cell disease
    • Noguchi CT, Rodgers GP, Serjeant G, Schechter AN (1988) Levels of fetal hemoglobin necessary for treatment of sickle cell disease. N Engl J Med 318(2):96-99
    • (1988) N Engl J Med , vol.318 , Issue.2 , pp. 96-99
    • Noguchi, C.T.1    Rodgers, G.P.2    Serjeant, G.3    Schechter, A.N.4
  • 102
    • 19944430732 scopus 로고    scopus 로고
    • Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia
    • Nolan VG, Baldwin C, Ma Q et al (2005) Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia. Br J Haematol 128(2):266-272
    • (2005) Br J Haematol , vol.128 , Issue.2 , pp. 266-272
    • Nolan, V.G.1    Baldwin, C.2    Ma, Q.3
  • 103
    • 33646271370 scopus 로고    scopus 로고
    • Sickle cell leg ulcers: Associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway
    • Nolan VG, Adewoye A, Baldwin C et al (2006) Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway. Br J Haematol 133(5):570-578
    • (2006) Br J Haematol , vol.133 , Issue.5 , pp. 570-578
    • Nolan, V.G.1    Adewoye, A.2    Baldwin, C.3
  • 104
    • 0035206893 scopus 로고    scopus 로고
    • Nucleotide variation regulates the level of enhancement by hypersensitive site 2 of the beta-globin locus control region
    • Ofori-Acquah SF, Lalloz MR, Layton DM (2001) Nucleotide variation regulates the level of enhancement by hypersensitive site 2 of the beta-globin locus control region. Blood Cells Mol Dis 27(5):803-811
    • (2001) Blood Cells Mol Dis , vol.27 , Issue.5 , pp. 803-811
    • Ofori-Acquah, S.F.1    Lalloz, M.R.2    Layton, D.M.3
  • 105
    • 66049157967 scopus 로고    scopus 로고
    • Association of the MBL2 gene EXON1 polymorphism and vasoocclusive crisis in patients with sickle cell anemia
    • Oliveira MC, Mendonca TF, Vasconcelos LR et al (2009) Association of the MBL2 gene EXON1 polymorphism and vasoocclusive crisis in patients with sickle cell anemia. Acta Haematol 121(4):212-215
    • (2009) Acta Haematol , vol.121 , Issue.4 , pp. 212-215
    • Oliveira, M.C.1    Mendonca, T.F.2    Vasconcelos, L.R.3
  • 106
    • 0034760144 scopus 로고    scopus 로고
    • Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia
    • Passon RG, Howard TA, Zimmerman SA, Schultz WH, Ware RE (2001) Influence of bilirubin uridine diphosphate-glucuronosyltransferase 1A promoter polymorphisms on serum bilirubin levels and cholelithiasis in children with sickle cell anemia. J Pediatr Hematol Oncol 23(7):448-451
    • (2001) J Pediatr Hematol Oncol , vol.23 , Issue.7 , pp. 448-451
    • Passon, R.G.1    Howard, T.A.2    Zimmerman, S.A.3    Schultz, W.H.4    Ware, R.E.5
  • 107
    • 2342458084 scopus 로고
    • Sickle cell anemia, a molecular disease
    • Pauling L, Itano HA et al (1949) Sickle cell anemia, a molecular disease. Science 109(2835):443
    • (1949) Science , vol.109 , Issue.2835 , pp. 443
    • Pauling, L.1    Itano, H.A.2
  • 108
    • 0025770390 scopus 로고
    • Pain in sickle cell disease: Rates and risk factors
    • Platt OS, Thorington BD, Brambilla DJ et al (1991) Pain in sickle cell disease: rates and risk factors. N Engl J Med 325(1):11-16
    • (1991) N Engl J Med , vol.325 , Issue.1 , pp. 11-16
    • Platt, O.S.1    Thorington, B.D.2    Brambilla, D.J.3
  • 109
    • 0028291736 scopus 로고
    • Mortality in sickle cell disease: Life expectancy and risk factors for early death
    • Platt OS, Brambilla DJ, Rosse WF et al (1994) Mortality in sickle cell disease: life expectancy and risk factors for early death. N Engl J Med 330(23):1639-1644
    • (1994) N Engl J Med , vol.330 , Issue.23 , pp. 1639-1644
    • Platt, O.S.1    Brambilla, D.J.2    Rosse, W.F.3
  • 110
    • 0025756644 scopus 로고
    • Beta s-gene-cluster haplotypes in sickle cell anemia. Clinical and hematologic features
    • Powars DR (1991) Beta s-gene-cluster haplotypes in sickle cell anemia. Clinical and hematologic features. Hematol Oncol Clin North Am 5(3):475-493
    • (1991) Hematol Oncol Clin North Am , vol.5 , Issue.3 , pp. 475-493
    • Powars, D.R.1
  • 111
    • 0035897912 scopus 로고    scopus 로고
    • Genetic determinants of jaundice and gallstones in haemoglobin
    • Premawardhena A, Fisher CA, Fathiu F et al (2001) Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. Lancet 357(9272):1945-1946
    • (2001) E Beta Thalassaemia. Lancet , vol.357 , Issue.9272 , pp. 1945-1946
    • Premawardhena, A.1    Fisher, C.A.2    Fathiu, F.3
  • 112
    • 70149123073 scopus 로고    scopus 로고
    • Glucose 6 phosphate dehydrogenase deficiency is not associated with cerebrovascular disease in children with sickle cell anemia
    • author reply 743-744
    • Rees DC, Lambert C, Cooper E et al (2009) Glucose 6 phosphate dehydrogenase deficiency is not associated with cerebrovascular disease in children with sickle cell anemia. Blood 114(3):742-743, author reply 743-744
    • (2009) Blood , vol.114 , Issue.3 , pp. 742-743
    • Rees, D.C.1    Lambert, C.2    Cooper, E.3
  • 114
    • 57849083996 scopus 로고    scopus 로고
    • Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A
    • Sankaran VG, Menne TF, Xu J et al (2008) Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 322(5909):1839-1842
    • (2008) Science , vol.322 , Issue.5909 , pp. 1839-1842
    • Sankaran, V.G.1    Menne, T.F.2    Xu, J.3
  • 115
    • 77949846880 scopus 로고    scopus 로고
    • Advances in the understanding of haemoglobin switching
    • Sankaran VG, Xu J, Orkin SH (2010) Advances in the understanding of haemoglobin switching. Br J Haematol 149(2):181-194
    • (2010) Br J Haematol , vol.149 , Issue.2 , pp. 181-194
    • Sankaran, V.G.1    Xu, J.2    Orkin, S.H.3
  • 116
    • 79952169016 scopus 로고    scopus 로고
    • MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13
    • Sankaran VG, Menne TF, Scepanovic D et al (2011) MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13. Proc Natl Acad Sci U S A 108(4):1519-1524
    • (2011) Proc Natl Acad Sci U S A , vol.108 , Issue.4 , pp. 1519-1524
    • Sankaran, V.G.1    Menne, T.F.2    Scepanovic, D.3
  • 117
    • 84892885498 scopus 로고    scopus 로고
    • Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus
    • Sankaran VG, Joshi M, Agrawal A et al (2013) Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Blood 122(23):3845-3847
    • (2013) Blood , vol.122 , Issue.23 , pp. 3845-3847
    • Sankaran, V.G.1    Joshi, M.2    Agrawal, A.3
  • 118
    • 34948867270 scopus 로고    scopus 로고
    • A network model to predict the risk of death in sickle cell disease
    • Sebastiani P, Nolan VG, Baldwin CT et al (2007) A network model to predict the risk of death in sickle cell disease. Blood 110(7):2727-2735
    • (2007) Blood , vol.110 , Issue.7 , pp. 2727-2735
    • Sebastiani, P.1    Nolan, V.G.2    Baldwin, C.T.3
  • 119
    • 74049109698 scopus 로고    scopus 로고
    • Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study
    • Sebastiani P, Solovieff N, Hartley SW et al (2010) Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study. Am J Hematol 85(1):29-35
    • (2010) Am J Hematol , vol.85 , Issue.1 , pp. 29-35
    • Sebastiani, P.1    Solovieff, N.2    Hartley, S.W.3
  • 121
    • 33846881560 scopus 로고    scopus 로고
    • Elderly survivors with homozygous sickle cell disease
    • Serjeant GR, Higgs DR, Hambleton IR (2007) Elderly survivors with homozygous sickle cell disease. N Engl J Med 356(6):642-643
    • (2007) N Engl J Med , vol.356 , Issue.6 , pp. 642-643
    • Serjeant, G.R.1    Higgs, D.R.2    Hambleton, I.R.3
  • 122
    • 1642458091 scopus 로고    scopus 로고
    • Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease
    • Sharan K, Surrey S, Ballas S et al (2004) Association of T-786C eNOS gene polymorphism with increased susceptibility to acute chest syndrome in females with sickle cell disease. Br J Haematol 124(2):240-243
    • (2004) Br J Haematol , vol.124 , Issue.2 , pp. 240-243
    • Sharan, K.1    Surrey, S.2    Ballas, S.3
  • 123
    • 84902598265 scopus 로고    scopus 로고
    • How I treat renal complications in sickle cell disease
    • Sharpe CC, Thein SL (2014) How I treat renal complications in sickle cell disease. Blood 123(24):3720-3726
    • (2014) Blood , vol.123 , Issue.24 , pp. 3720-3726
    • Sharpe, C.C.1    Thein, S.L.2
  • 124
    • 84908031073 scopus 로고    scopus 로고
    • Glutathione S-transferase gene polymorphisms (GSTM1, GSTT1, and GSTP1) in Egyptian pediatric patients with sickle cell disease
    • Shiba HF, El-Ghamrawy MK, Shaheen IA, Ali RA, Mousa SM (2014) Glutathione S-transferase gene polymorphisms (GSTM1, GSTT1, and GSTP1) in Egyptian pediatric patients with sickle cell disease. Pediatr Dev Pathol 17(4):265-270
    • (2014) Pediatr Dev Pathol , vol.17 , Issue.4 , pp. 265-270
    • Shiba, H.F.1    El-Ghamrawy, M.K.2    Shaheen, I.A.3    Ali, R.A.4    Mousa, S.M.5
  • 125
    • 80052153840 scopus 로고    scopus 로고
    • The multifunctional role of EKLF/KLF1 during erythropoiesis
    • Siatecka M, Bieker JJ (2011) The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood 118(8):2044-2054
    • (2011) Blood , vol.118 , Issue.8 , pp. 2044-2054
    • Siatecka, M.1    Bieker, J.J.2
  • 127
    • 70350644759 scopus 로고    scopus 로고
    • A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium
    • Soranzo N, Spector TD, Mangino M et al (2009) A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet 41(11):1182-1190
    • (2009) Nat Genet , vol.41 , Issue.11 , pp. 1182-1190
    • Soranzo, N.1    Spector, T.D.2    Mangino, M.3
  • 128
    • 84857051019 scopus 로고    scopus 로고
    • Dynamic long-range chromatin interactions control Myb proto-oncogene transcription during erythroid development
    • Stadhouders R, Thongjuea S, Andrieu-Soler C et al (2012) Dynamic long-range chromatin interactions control Myb proto-oncogene transcription during erythroid development. EMBO J 31(4): 986-999
    • (2012) EMBO J , vol.31 , Issue.4 , pp. 986-999
    • Stadhouders, R.1    Thongjuea, S.2    Rieu-Soler, C.3
  • 129
    • 84897568562 scopus 로고    scopus 로고
    • HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers
    • Stadhouders R, Aktuna S, Thongjuea S et al (2014) HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J Clin Invest 124(4):1699-1710
    • (2014) J Clin Invest , vol.124 , Issue.4 , pp. 1699-1710
    • Stadhouders, R.1    Aktuna, S.2    Thongjuea, S.3
  • 130
    • 13844318521 scopus 로고    scopus 로고
    • Control of globin gene expression during development and ery-throid differentiation
    • Stamatoyannopoulos G (2005) Control of globin gene expression during development and ery-throid differentiation. Exp Hematol 33(3):259-271
    • (2005) Exp Hematol , vol.33 , Issue.3 , pp. 259-271
    • Stamatoyannopoulos, G.1
  • 131
    • 65549111723 scopus 로고    scopus 로고
    • Genetic etiologies for phenotypic diversity in sickle cell anemia
    • Steinberg MH (2009) Genetic etiologies for phenotypic diversity in sickle cell anemia. ScientificWorldJournal 9:46-67
    • (2009) Scientificworldjournal , vol.9 , pp. 46-67
    • Steinberg, M.H.1
  • 132
    • 0022808364 scopus 로고
    • Alpha-thalassemia in blacks: Genetic and clinical aspects and interactions with the sickle hemoglobin gene
    • Steinberg MH, Embury SH (1986) Alpha-thalassemia in blacks: genetic and clinical aspects and interactions with the sickle hemoglobin gene. Blood 68(5):985-990
    • (1986) Blood , vol.68 , Issue.5 , pp. 985-990
    • Steinberg, M.H.1    Embury, S.H.2
  • 133
    • 84864016792 scopus 로고    scopus 로고
    • Genetic modifiers of sickle cell disease
    • Steinberg MH, Sebastiani P (2012) Genetic modifiers of sickle cell disease. Am J Hematol 87(8):795-803
    • (2012) Am J Hematol , vol.87 , Issue.8 , pp. 795-803
    • Steinberg, M.H.1    Sebastiani, P.2
  • 134
    • 0023898154 scopus 로고
    • Effects of glucose-6-phosphate dehydrogenase deficiency upon sickle cell anemia
    • Steinberg MH, West MS, Gallagher D, Mentzer W (1988) Effects of glucose-6-phosphate dehydrogenase deficiency upon sickle cell anemia. Blood 71(3):748-752
    • (1988) Blood , vol.71 , Issue.3 , pp. 748-752
    • Steinberg, M.H.1    West, M.S.2    Gallagher, D.3    Mentzer, W.4
  • 135
    • 0030893396 scopus 로고    scopus 로고
    • Fetal hemoglobin in sickle cell anemia: Determinants of response to hydroxyurea. Multicenter Study of Hydroxyurea
    • Steinberg MH, Lu ZH, Barton FB et al (1997) Fetal hemoglobin in sickle cell anemia: determinants of response to hydroxyurea. Multicenter Study of Hydroxyurea. Blood 89(3):1078-1088
    • (1997) Blood , vol.89 , Issue.3 , pp. 1078-1088
    • Steinberg, M.H.1    Lu, Z.H.2    Barton, F.B.3
  • 136
    • 0034210945 scopus 로고    scopus 로고
    • Evidence for HLA-related susceptibility for stroke in children with sickle cell disease
    • Styles LA, Hoppe C, Klitz W et al (2000) Evidence for HLA-related susceptibility for stroke in children with sickle cell disease. Blood 95(11):3562-3567
    • (2000) Blood , vol.95 , Issue.11 , pp. 3562-3567
    • Styles, L.A.1    Hoppe, C.2    Klitz, W.3
  • 137
    • 0037114210 scopus 로고    scopus 로고
    • Low exhaled nitric oxide and a polymorphism in the NOS I gene is associated with acute chest syndrome
    • Sullivan KJ, Kissoon N, Duckworth LJ et al (2001) Low exhaled nitric oxide and a polymorphism in the NOS I gene is associated with acute chest syndrome. Am J Respir Crit Care Med 164(12):2186-2190
    • (2001) Am J Respir Crit Care Med , vol.164 , Issue.12 , pp. 2186-2190
    • Sullivan, K.J.1    Kissoon, N.2    Duckworth, L.J.3
  • 138
    • 84876336589 scopus 로고    scopus 로고
    • Disruption of the Hbs1l-Myb locus causes hereditary persistence of fetal hemoglobin in a mouse model
    • Suzuki M, Yamazaki H, Mukai HY et al (2013) Disruption of the Hbs1l-Myb locus causes hereditary persistence of fetal hemoglobin in a mouse model. Mol Cell Biol 33(8):1687-1695
    • (2013) Mol Cell Biol , vol.33 , Issue.8 , pp. 1687-1695
    • Suzuki, M.1    Yamazaki, H.2    Mukai, H.Y.3
  • 139
    • 84906956364 scopus 로고    scopus 로고
    • Fetal globin gene repressors as drug targets for molecular therapies to treat the beta-globinopathies
    • Suzuki M, Yamamoto M, Engel JD (2014) Fetal globin gene repressors as drug targets for molecular therapies to treat the beta-globinopathies. Mol Cell Biol 34(19):3560-3569
    • (2014) Mol Cell Biol , vol.34 , Issue.19 , pp. 3560-3569
    • Suzuki, M.1    Yamamoto, M.2    Engel, J.D.3
  • 140
    • 84876298874 scopus 로고    scopus 로고
    • Three fingers on the switch: Kruppel-like factor 1 regulation of gamma-globin to beta-globin gene switching
    • Tallack MR, Perkins AC (2013) Three fingers on the switch: Kruppel-like factor 1 regulation of gamma-globin to beta-globin gene switching. Curr Opin Hematol 20(3):193-200
    • (2013) Curr Opin Hematol , vol.20 , Issue.3 , pp. 193-200
    • Tallack, M.R.1    Perkins, A.C.2
  • 141
    • 0036129580 scopus 로고    scopus 로고
    • Infectious complications in sickle cell disease are influenced by HLA class II alleles
    • Tamouza R, Neonato MG, Busson M et al (2002) Infectious complications in sickle cell disease are influenced by HLA class II alleles. Hum Immunol 63(3):194-199
    • (2002) Hum Immunol , vol.63 , Issue.3 , pp. 194-199
    • Tamouza, R.1    Neonato, M.G.2    Busson, M.3
  • 142
    • 35348987704 scopus 로고    scopus 로고
    • HLA-E*0101 allele in homozygous state favors severe bacterial infections in sickle cell anemia
    • Tamouza R, Busson M, Fortier C et al (2007) HLA-E*0101 allele in homozygous state favors severe bacterial infections in sickle cell anemia. Hum Immunol 68(10):849-853
    • (2007) Hum Immunol , vol.68 , Issue.10 , pp. 849-853
    • Tamouza, R.1    Busson, M.2    Fortier, C.3
  • 143
    • 0034776219 scopus 로고    scopus 로고
    • Polymorphisms within the angiotensinogen gene (GT-repeat) and the risk of stroke in pediatric patients with sickle cell disease: A case-control study
    • Tang DC, Prauner R, Liu W et al (2001) Polymorphisms within the angiotensinogen gene (GT-repeat) and the risk of stroke in pediatric patients with sickle cell disease: a case-control study. Am J Hematol 68(3):164-169
    • (2001) Am J Hematol , vol.68 , Issue.3 , pp. 164-169
    • Tang, D.C.1    Prauner, R.2    Liu, W.3
  • 144
    • 84921361762 scopus 로고    scopus 로고
    • Endothelial nitric oxide synthase gene intron 4 VNTR polymorphism in sickle cell disease: Relation to vasculopathy and disease severity
    • Tantawy AA, Adly AA, Ismail EA, Aly SH (2015) Endothelial nitric oxide synthase gene intron 4 VNTR polymorphism in sickle cell disease: relation to vasculopathy and disease severity. Pediatr Blood Cancer 62(3):389-394
    • (2015) Pediatr Blood Cancer , vol.62 , Issue.3 , pp. 389-394
    • Tantawy, A.A.1    Adly, A.A.2    Ismail, E.A.3    Aly, S.H.4
  • 145
    • 0037114628 scopus 로고    scopus 로고
    • Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease
    • Taylor JG, Tang DC, Savage SA et al (2002) Variants in the VCAM1 gene and risk for symptomatic stroke in sickle cell disease. Blood 100(13):4303-4309
    • (2002) Blood , vol.100 , Issue.13 , pp. 4303-4309
    • Taylor, J.G.1    Tang, D.C.2    Savage, S.A.3
  • 146
    • 47749090563 scopus 로고    scopus 로고
    • Chronic hyper-hemolysis in sickle cell anemia: Association of vascular complications and mortality with less frequent vasoocclusive pain
    • Taylor JG, Nolan VG, Mendelsohn L et al (2008) Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain. PLoS One 3(5):e2095
    • (2008) Plos One , vol.3 , Issue.5
    • Taylor, J.G.1    Nolan, V.G.2    Mendelsohn, L.3
  • 147
    • 84867463377 scopus 로고    scopus 로고
    • Magnetic resonance angiography-defined intracranial vasculopathy is associated with silent cerebral infarcts and glucose-6-phosphate dehydrogenase mutation in children with sickle cell anaemia
    • Thangarajh M, Yang G, Fuchs D et al (2012) Magnetic resonance angiography-defined intracranial vasculopathy is associated with silent cerebral infarcts and glucose-6-phosphate dehydrogenase mutation in children with sickle cell anaemia. Br J Haematol 159(3):352-359
    • (2012) Br J Haematol , vol.159 , Issue.3 , pp. 352-359
    • Thangarajh, M.1    Yang, G.2    Fuchs, D.3
  • 148
    • 81055147553 scopus 로고    scopus 로고
    • Genetic modifiers of sickle cell disease
    • Thein SL (2011) Genetic modifiers of sickle cell disease. Hemoglobin 35(5-6):589-606
    • (2011) Hemoglobin , vol.35 , Issue.5-6 , pp. 589-606
    • Thein, S.L.1
  • 149
    • 0032406849 scopus 로고    scopus 로고
    • Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin
    • Thein SL, Craig JE (1998) Genetics of Hb F/F cell variance in adults and heterocellular hereditary persistence of fetal hemoglobin. Hemoglobin 22:401-414
    • (1998) Hemoglobin , vol.22 , pp. 401-414
    • Thein, S.L.1    Craig, J.E.2
  • 150
    • 65349107708 scopus 로고    scopus 로고
    • Discovering the genetics underlying foetal haemoglobin production in adults
    • Thein SL, Menzel S (2009) Discovering the genetics underlying foetal haemoglobin production in adults. Br J Haematol 145(4):455-467
    • (2009) Br J Haematol , vol.145 , Issue.4 , pp. 455-467
    • Thein, S.L.1    Menzel, S.2
  • 151
    • 34547450531 scopus 로고    scopus 로고
    • Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults
    • Thein SL, Menzel S, Peng X et al (2007) Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci U S A 104(27):11346-11351
    • (2007) Proc Natl Acad Sci U S A , vol.104 , Issue.27 , pp. 11346-11351
    • Thein, S.L.1    Menzel, S.2    Peng, X.3
  • 152
    • 77949807007 scopus 로고    scopus 로고
    • Control of fetal hemoglobin: New insights emerging from genomics and clinical implications
    • Thein SL, Menzel S, Lathrop M, Garner C (2009) Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet 18(R2):R216-R223
    • (2009) Hum Mol Genet , vol.18 , Issue.R2 , pp. R216-R223
    • Thein, S.L.1    Menzel, S.2    Lathrop, M.3    Garner, C.4
  • 153
    • 0030890407 scopus 로고    scopus 로고
    • Benign clinical course in homozygous sickle cell disease: A search for predictors
    • Thomas PW, Higgs DR, Serjeant GR (1997) Benign clinical course in homozygous sickle cell disease: a search for predictors. J Clin Epidemiol 50(2):121-126
    • (1997) J Clin Epidemiol , vol.50 , Issue.2 , pp. 121-126
    • Thomas, P.W.1    Higgs, D.R.2    Serjeant, G.R.3
  • 154
    • 40349092939 scopus 로고    scopus 로고
    • Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
    • Uda M, Galanello R, Sanna S et al (2008) Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A 105(5):1620-1625
    • (2008) Proc Natl Acad Sci U S A , vol.105 , Issue.5 , pp. 1620-1625
    • Uda, M.1    Galanello, R.2    Sanna, S.3
  • 155
    • 67649392384 scopus 로고    scopus 로고
    • Association of sickle avascular necrosis with bone morphogenic protein 6
    • Ulug P, Vasavda N, Awogbade M et al (2009) Association of sickle avascular necrosis with bone morphogenic protein 6. Ann Hematol 88(8):803-805
    • (2009) Ann Hematol , vol.88 , Issue.8 , pp. 803-805
    • Ulug, P.1    Vasavda, N.2    Awogbade, M.3
  • 156
    • 84871464519 scopus 로고    scopus 로고
    • Seventy-five genetic loci influencing the human red blood cell
    • van der Harst P, Zhang W, Mateo Leach I et al (2012) Seventy-five genetic loci influencing the human red blood cell. Nature 492(7429):369-375
    • (2012) Nature , vol.492 , Issue.7429 , pp. 369-375
    • Van Der Harst, P.1    Zhang, W.2    Mateo Leach, I.3
  • 157
    • 34250846041 scopus 로고    scopus 로고
    • The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease
    • Vasavda N, Menzel S, Kondaveeti S et al (2007) The linear effects of alpha-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease. Br J Haematol 138(2):263-270
    • (2007) Br J Haematol , vol.138 , Issue.2 , pp. 263-270
    • Vasavda, N.1    Menzel, S.2    Kondaveeti, S.3
  • 158
    • 54849433162 scopus 로고    scopus 로고
    • The presence of alpha-thalassaemia trait blunts the response to hydroxycarbamide in patients with sickle cell disease
    • Vasavda N, Badiger S, Rees D et al (2008) The presence of alpha-thalassaemia trait blunts the response to hydroxycarbamide in patients with sickle cell disease. Br J Haematol 143(4): 589-592
    • (2008) Br J Haematol , vol.143 , Issue.4 , pp. 589-592
    • Vasavda, N.1    Badiger, S.2    Rees, D.3
  • 159
    • 84923948302 scopus 로고    scopus 로고
    • Interleukin-1beta and interleukin-6 gene polymorphisms are associated with manifestations of sickle cell anemia
    • Vicari P, Adegoke SA, Mazzotti DR et al (2015) Interleukin-1beta and interleukin-6 gene polymorphisms are associated with manifestations of sickle cell anemia. Blood Cells Mol Dis 54(3): 244-249
    • (2015) Blood Cells Mol Dis , vol.54 , Issue.3 , pp. 244-249
    • Vicari, P.1    Adegoke, S.A.2    Mazzotti, D.R.3
  • 160
    • 84897515773 scopus 로고    scopus 로고
    • Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression
    • Viprakasit V, Ekwattanakit S, Riolueang S et al (2014) Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. Blood 123:1586-1595
    • (2014) Blood , vol.123 , pp. 1586-1595
    • Viprakasit, V.1    Ekwattanakit, S.2    Riolueang, S.3
  • 161
    • 52249110610 scopus 로고    scopus 로고
    • MRI abnormalities of the brain in one-year-old children with sickle cell anemia
    • Wang WC, Pavlakis SG, Helton KJ et al (2008) MRI abnormalities of the brain in one-year-old children with sickle cell anemia. Pediatr Blood Cancer 51(5):643-646
    • (2008) Pediatr Blood Cancer , vol.51 , Issue.5 , pp. 643-646
    • Wang, W.C.1    Pavlakis, S.G.2    Helton, K.J.3
  • 162
    • 77955905049 scopus 로고    scopus 로고
    • How I use hydroxyurea to treat young patients with sickle cell anemia
    • Ware RE (2010) How I use hydroxyurea to treat young patients with sickle cell anemia. Blood 115(26):5300-5311
    • (2010) Blood , vol.115 , Issue.26 , pp. 5300-5311
    • Ware, R.E.1
  • 163
    • 0036096085 scopus 로고    scopus 로고
    • Predictors of fetal hemoglobin response in children with sickle cell anemia receiving hydroxyurea therapy
    • Ware RE, Eggleston B, Redding-Lallinger R et al (2002) Predictors of fetal hemoglobin response in children with sickle cell anemia receiving hydroxyurea therapy. Blood 99(1):10-14
    • (2002) Blood , vol.99 , Issue.1 , pp. 10-14
    • Ware, R.E.1    Eggleston, B.2    Redding-Lallinger, R.3
  • 165
    • 8644228649 scopus 로고    scopus 로고
    • Global regulation of erythroid gene expression by transcription factor GATA-1
    • Welch JJ, Watts JA, Vakoc CR et al (2004) Global regulation of erythroid gene expression by transcription factor GATA-1. Blood 104(10):3136-3147
    • (2004) Blood , vol.104 , Issue.10 , pp. 3136-3147
    • Welch, J.J.1    Watts, J.A.2    Vakoc, C.R.3
  • 166
    • 79954568538 scopus 로고    scopus 로고
    • Transcriptional regulation of fetal to adult hemoglobin switching: New therapeutic opportunities
    • Wilber A, Nienhuis AW, Persons DA (2011) Transcriptional regulation of fetal to adult hemoglobin switching: new therapeutic opportunities. Blood 117(15):3945-3953
    • (2011) Blood , vol.117 , Issue.15 , pp. 3945-3953
    • Wilber, A.1    Nienhuis, A.W.2    Persons, D.A.3
  • 167
    • 84899893333 scopus 로고    scopus 로고
    • Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon
    • Wonkam A, Ngo Bitoungui VJ, Vorster AA et al (2014) Association of variants at BCL11A and HBS1L-MYB with hemoglobin F and hospitalization rates among sickle cell patients in Cameroon. PLoS One 9(3):e92506
    • (2014) Plos One , vol.9 , Issue.3
    • Wonkam, A.1    Ngo Bitoungui, V.J.2    Vorster, A.A.3
  • 168
    • 77950930726 scopus 로고    scopus 로고
    • Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6
    • Xu J, Sankaran VG, Ni M et al (2010) Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6. Genes Dev 24(8):783-798
    • (2010) Genes Dev , vol.24 , Issue.8 , pp. 783-798
    • Xu, J.1    Sankaran, V.G.2    Ni, M.3
  • 169
    • 81555205756 scopus 로고    scopus 로고
    • Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing
    • Xu J, Peng C, Sankaran VG et al (2011) Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science 334(6058):993-996
    • (2011) Science , vol.334 , Issue.6058 , pp. 993-996
    • Xu, J.1    Peng, C.2    Sankaran, V.G.3
  • 170
    • 84876239967 scopus 로고    scopus 로고
    • Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A
    • Xu J, Bauer DE, Kerenyi MA et al (2013) Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A. Proc Natl Acad Sci U S A 110(16):6518-6523
    • (2013) Proc Natl Acad Sci U S A , vol.110 , Issue.16 , pp. 6518-6523
    • Xu, J.1    Bauer, D.E.2    Kerenyi, M.A.3
  • 171
    • 84907016412 scopus 로고    scopus 로고
    • Management of sickle cell disease: Summary of the 2014 evidence-based report by expert panel members
    • Yawn BP, Buchanan GR, Afenyi-Annan AN et al (2014) Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. JAMA 312(10):1033-1048
    • (2014) JAMA , vol.312 , Issue.10 , pp. 1033-1048
    • Yawn, B.P.1    Buchanan, G.R.2    Afenyi-Annan, A.N.3
  • 172
    • 84899473094 scopus 로고    scopus 로고
    • Hypoxic response contributes to altered gene expression and precapillary pulmonary hypertension in patients with sickle cell disease
    • Zhang X, Zhang W, Ma SF et al (2014) Hypoxic response contributes to altered gene expression and precapillary pulmonary hypertension in patients with sickle cell disease. Circulation 129(16):1650-1658
    • (2014) Circulation , vol.129 , Issue.16 , pp. 1650-1658
    • Zhang, X.1    Zhang, W.2    Ma, S.F.3
  • 173
    • 77956630402 scopus 로고    scopus 로고
    • KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching
    • Zhou D, Liu K, Sun CW, Pawlik KM, Townes TM (2010) KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching. Nat Genet 42(9):742-744
    • (2010) Nat Genet , vol.42 , Issue.9 , pp. 742-744
    • Zhou, D.1    Liu, K.2    Sun, C.W.3    Pawlik, K.M.4    Townes, T.M.5
  • 174
    • 0031724415 scopus 로고    scopus 로고
    • Inherited DNA mutations contributing to thrombotic complications in patients with sickle cell disease
    • Zimmerman SA, Ware RE (1998) Inherited DNA mutations contributing to thrombotic complications in patients with sickle cell disease. Am J Hematol 59(4):267-272
    • (1998) Am J Hematol , vol.59 , Issue.4 , pp. 267-272
    • Zimmerman, S.A.1    Ware, R.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.