메뉴 건너뛰기




Volumn 64, Issue 4, 2006, Pages 341-345

β°/β° thalassemia with a mild phenotype;Thalassémie β°/β° avec phénotype «intermédiaire»: Un diagnostic rare... auquel il faut penser

Author keywords

Fetal hemoglobin; Thalassemia intermedia; globin gene cluster polymorphisms; thalassemia mutation

Indexed keywords

GLOBIN; HEMOGLOBIN F;

EID: 33747054466     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (12)
  • 1
    • 0034321997 scopus 로고    scopus 로고
    • Genetic factors affecting clinical severity in beta-thalassemia syndromes
    • Winichagoon P, Fucharoen S, Chen P, Wasi P. Genetic factors affecting clinical severity in beta-thalassemia syndromes. J Ped Hematol Oncol 2000 ; 22 : 573-80.
    • (2000) J Ped Hematol Oncol , vol.22 , pp. 573-580
    • Winichagoon, P.1    Fucharoen, S.2    Chen, P.3    Wasi, P.4
  • 2
    • 0019802892 scopus 로고
    • Nonsense and frameshift mutations in β°-thalassemia detected in cloned β globin genes
    • Orkin SH, Goff SC. Nonsense and frameshift mutations in β°-thalassemia detected in cloned β globin genes. J Biol Chem 1981 ; 256 : 9782-4.
    • (1981) J Biol Chem , vol.256 , pp. 9782-9784
    • Orkin, S.H.1    Goff, S.C.2
  • 3
    • 0029878430 scopus 로고
    • Modulation polygénique des maladies monogéniques: L'exemple de la drépanocytose
    • Labie D, Elion J. Modulation polygénique des maladies monogéniques : l'exemple de la drépanocytose. Med Sci (Paris) 1995 ; 12 : 341-9.
    • (1995) Med Sci (Paris) , vol.12 , pp. 341-349
    • Labie, D.1    Elion, J.2
  • 4
    • 0242362229 scopus 로고    scopus 로고
    • Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G>A mutation: Role of the β-globin gene haplotype
    • Ragusa A, Amata S, Lombardo T, et al. Asymptomatic and mild β-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G>A mutation : role of the β-globin gene haplotype. Haematologica 2003 ; 88 : 1099-105.
    • (2003) Haematologica , vol.88 , pp. 1099-1105
    • Ragusa, A.1    Amata, S.2    Lombardo, T.3
  • 5
    • 0034112971 scopus 로고    scopus 로고
    • Beta-thalassemia intermedia in Lebanon
    • Qatanani M, Taher A, Koussa S, et al. Beta-thalassemia intermedia in Lebanon. Eur J Haematol 2000 ; 64 : 237-44.
    • (2000) Eur J Haematol , vol.64 , pp. 237-244
    • Qatanani, M.1    Taher, A.2    Koussa, S.3
  • 6
    • 0034846045 scopus 로고    scopus 로고
    • Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians
    • Nadkarni A, Goraksharkar AC, Lu CY, et al. Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians. Am J Hematol 2001 ; 68 : 75-80.
    • (2001) Am J Hematol , vol.68 , pp. 75-80
    • Nadkarni, A.1    Goraksharkar, A.C.2    Lu, C.Y.3
  • 7
    • 0036720532 scopus 로고    scopus 로고
    • Homozygosity for nondeletion delta-beta (0) thalassemia resulting in a silent clinical phenotype
    • Galanello R, Barella S, Satta S, Maccioni L, Pintor C, Cao A. Homozygosity for nondeletion delta-beta (0) thalassemia resulting in a silent clinical phenotype. Blood 2002 ; 100 : 1913-4.
    • (2002) Blood , vol.100 , pp. 1913-1914
    • Galanello, R.1    Barella, S.2    Satta, S.3    Maccioni, L.4    Pintor, C.5    Cao, A.6
  • 8
    • 0026632437 scopus 로고
    • Genetic epidemiology of beta-thalasssemaia in Silicy: Do sequences 5′ to the G gamma gene and 5′ to the beta gene interact to enhance HbF expression in beta-thalassemia
    • Ragusa A, Lombardo M, Beljord C, et al. Genetic epidemiology of beta-thalasssemaia in Silicy : do sequences 5′ to the G gamma gene and 5′ to the beta gene interact to enhance HbF expression in beta-thalassemia. Am J Hematol 1992 ; 40 : 199-206.
    • (1992) Am J Hematol , vol.40 , pp. 199-206
    • Ragusa, A.1    Lombardo, M.2    Beljord, C.3
  • 9
    • 0043065317 scopus 로고    scopus 로고
    • Role of polymorphic sequences 5′ to the G(gamma) gene and 5′ to the beta gene on the homozygous beta thalassemic phenotype
    • Ferrara M, Matarese SM, Francese M, et al. Role of polymorphic sequences 5′ to the G(gamma) gene and 5′ to the beta gene on the homozygous beta thalassemic phenotype. Hemoglobin 2003 ; 27 : 167-75.
    • (2003) Hemoglobin , vol.27 , pp. 167-175
    • Ferrara, M.1    Matarese, S.M.2    Francese, M.3
  • 10
    • 0026665430 scopus 로고
    • Black beta-thalassemia homozygotes with specific sequence variations in the 5′ hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin
    • Beris P, Kitundu MN, Baysal E, et al. Black beta-thalassemia homozygotes with specific sequence variations in the 5′ hypersensitive site-2 of the locus control region have high levels of fetal hemoglobin. Am J Hematol 1992 ; 41 : 97-101.
    • (1992) Am J Hematol , vol.41 , pp. 97-101
    • Beris, P.1    Kitundu, M.N.2    Baysal, E.3
  • 11
    • 0028942051 scopus 로고
    • Genetic interactions in thalassemia intermedia: Analysis of beta-mutations, alpha genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients
    • Camaschella Mazza U, Roetto A, Gottardi E, et al. Genetic interactions in thalassemia intermedia : analysis of beta-mutations, alpha genotype, gamma-promoters, and beta-LCR hypersensitive sites 2 and 4 in Italian patients. Am J Hematol 1995 ; 48 : 82-7.
    • (1995) Am J Hematol , vol.48 , pp. 82-87
    • Camaschella Mazza, U.1    Roetto, A.2    Gottardi, E.3
  • 12
    • 0037065526 scopus 로고    scopus 로고
    • A novel mechanism for thalassemia intermedia
    • Badens C, Mattei MG, Imbert AM, et al. A novel mechanism for thalassemia intermedia. Lancet 2002 ; 359 : 132-3.
    • (2002) Lancet , vol.359 , pp. 132-133
    • Badens, C.1    Mattei, M.G.2    Imbert, A.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.