메뉴 건너뛰기




Volumn 65, Issue 7, 2012, Pages 654-659

First case of Hb Fontainebleau with sickle haemoglobin and other non-deletional α gene variants identified in neonates during newborn screening for sickle cell disorders

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; HAPTOGLOBIN O; HEMOGLOBIN; HEMOGLOBIN FONTAINEBLEAU; HEMOGLOBIN KOYA DORA; HEMOGLOBIN S; UNCLASSIFIED DRUG;

EID: 84863580493     PISSN: 00219746     EISSN: 14724146     Source Type: Journal    
DOI: 10.1136/jclinpath-2011-200642     Document Type: Article
Times cited : (21)

References (27)
  • 1
    • 0007746284 scopus 로고
    • Abnormal hemoglobins in India
    • Sen NN, Basu AK, eds. J.B. Chaterjea Memorial, India: The Calcutta School of Tropical Medicine
    • Sukumaran PK. Abnormal hemoglobins in India. In: Sen NN, Basu AK, eds. Trends in Haematology. J.B. Chaterjea Memorial, India: The Calcutta School of Tropical Medicine, 1975:225-61.
    • (1975) Trends in Haematology , pp. 225-261
    • Sukumaran, P.K.1
  • 2
    • 34848853516 scopus 로고    scopus 로고
    • Newborn sickle cell disease screening: The Jamaican experience (1995-2006)
    • King L, Fraser R, Forbes M, et al. Newborn sickle cell disease screening: the Jamaican experience (1995-2006). J Med Screen 2007;14:117-21.
    • (2007) J Med Screen , vol.14 , pp. 117-121
    • King, L.1    Fraser, R.2    Forbes, M.3
  • 3
    • 58349114639 scopus 로고    scopus 로고
    • Neonatal/newborn haemoglobinopathy screening in Europe and Africa
    • Bain BJ. Neonatal/newborn haemoglobinopathy screening in Europe and Africa. J Clin Pathol 2009;62:53-6.
    • (2009) J Clin Pathol , vol.62 , pp. 53-56
    • Bain, B.J.1
  • 4
    • 62449272809 scopus 로고    scopus 로고
    • Newborn screening for hemoglobinopathies in California
    • Michlitsch J, Azimi M, Hoppe C, et al. Newborn screening for hemoglobinopathies in California. Pediatr Blood Cancer 2009;52:486-90.
    • (2009) Pediatr Blood Cancer , vol.52 , pp. 486-490
    • Michlitsch, J.1    Azimi, M.2    Hoppe, C.3
  • 5
    • 84921431163 scopus 로고    scopus 로고
    • Neonatal screening for sickle cell disease
    • Cochrane Review. John Wiley & Sons, Ltd
    • Lees C, Davies SC, Dezateux C. Neonatal screening for sickle cell disease (Cochrane Review). The Cochrane Library. Issue 1. John Wiley & Sons, Ltd, 2000. http://www.thecochranelibrary.com
    • (2000) The Cochrane Library , Issue.1
    • Lees, C.1    Davies, S.C.2    Dezateux, C.3
  • 6
    • 0036183535 scopus 로고    scopus 로고
    • Sickle cell disease in India
    • DOI 10.1097/00062752-200203000-00006
    • Mohanty D, Mukherjee MB. Sickle cell disease in India. Curr Opin Hematol 2002;9:117-22. (Pubitemid 34171487)
    • (2002) Current Opinion in Hematology , vol.9 , Issue.2 , pp. 117-122
    • Mohanty, D.1    Mukherjee, M.B.2
  • 7
    • 84882807682 scopus 로고    scopus 로고
    • Basic hematological techniques
    • Lewis SM, Bain BJ, Bates I, eds. 10th edn. Philadelphia, PA: Churchill Livingstone
    • Bain BJ, Lewis SM, Bates I. Basic hematological techniques. In: Lewis SM, Bain BJ, Bates I, eds. Dacie and Lewis Practical Hematology. 10th edn. Philadelphia, PA: Churchill Livingstone, 2006:p25.
    • (2006) Dacie and Lewis Practical Hematology , pp. 25
    • Bain, B.J.1    Lewis, S.M.2    Bates, I.3
  • 8
    • 0035412399 scopus 로고    scopus 로고
    • A rapid and reliable 7 deletion multiplex polymerase chain reaction assay for α thalassemia
    • Tan A, Quah T, Low P, et al. A rapid and reliable 7 deletion multiplex polymerase chain reaction assay for α thalassemia. Blood 2001;98:250.
    • (2001) Blood , vol.98 , pp. 250
    • Tan, A.1    Quah, T.2    Low, P.3
  • 9
    • 0002452658 scopus 로고    scopus 로고
    • DNA based diagnosis of the hemoglobin disorders
    • Steinberg MH, Forget BG, Higgs DR, et al, eds. Cambridge: Cambridge University Press
    • Old JM. DNA based diagnosis of the hemoglobin disorders. In: Steinberg MH, Forget BG, Higgs DR, et al, eds. Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management. Cambridge: Cambridge University Press, 2001:946-51.
    • (2001) Disorders of Hemoglobin: Genetics, Pathophysiology and Clinical Management , pp. 946-951
    • Old, J.M.1
  • 11
    • 77649221786 scopus 로고    scopus 로고
    • Five α globin chain variants identified during screening for hemoglobinopathies
    • Nair S, Nadkarni A, Warang P, et al. Five α globin chain variants identified during screening for hemoglobinopathies. Eur J Clin Invest 2010;40:226-32.
    • (2010) Eur J Clin Invest , vol.40 , pp. 226-232
    • Nair, S.1    Nadkarni, A.2    Warang, P.3
  • 12
    • 0020625717 scopus 로고
    • Alpha chain and gamma chain abnormal hemoglobins in newborn babies: Structural and genetic aspects
    • Nakatsuji T, Carver J, Wilson JB, et al. Alpha chain and gamma chain abnormal hemoglobins in newborn babies: structural and genetic aspects. Am J Hematol 1983;14:121-32. (Pubitemid 13121275)
    • (1983) American Journal of Hematology , vol.14 , Issue.2 , pp. 121-132
    • Nakatsuji, T.1    Carver, J.2    Wilson, J.B.3
  • 13
    • 0024457242 scopus 로고
    • Hb Fontainebleau [alpha 21(B2)Aladpro], a new silent mutant hemoglobin
    • Wajcman H, Blouquit Y, Gombaud-Saintonge G, et al. Hb Fontainebleau [alpha 21(B2)Aladpro], a new silent mutant hemoglobin. Hemoglobin 1989;13:412-18.
    • (1989) Hemoglobin , vol.13 , pp. 412-418
    • Wajcman, H.1    Blouquit, Y.2    Gombaud-Saintonge, G.3
  • 14
    • 68849106452 scopus 로고    scopus 로고
    • A second case of Hb Fontainebleau [a-21 (B2) Ala→Pro] in an individual with microcytosis
    • Brennan SO, Chan T, Ryken S, et al. A second case of Hb Fontainebleau [a-21 (B2) Ala→Pro] in an individual with microcytosis. Hemoglobin 2009;33:258-61.
    • (2009) Hemoglobin , vol.33 , pp. 258-261
    • Brennan, S.O.1    Chan, T.2    Ryken, S.3
  • 17
    • 34547206168 scopus 로고    scopus 로고
    • Hb Zoetermeer: A new mutation on the α2 gene inducing an Ala→Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype
    • Harteveld LC, van Helden WCH, Boxma GL, et al. Hb Zoetermeer: a new mutation on the α2 gene inducing an Ala→Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype. Hemoglobin 1997;31:325-32.
    • (1997) Hemoglobin , vol.31 , pp. 325-332
    • Harteveld, L.C.1    Van Helden, W.C.H.2    Boxma, G.L.3
  • 18
    • 0028172744 scopus 로고
    • The differences in quantities of alpha2- And alpha1- globin gene variants in heterozygotes
    • Molchanova TP, Pobedimskaya DD, Huisman TH. The differences in quantities of alpha2- and alpha1- globin gene variants in heterozygotes. Br J Haematol 1994;88:300-6.
    • (1994) Br J Haematol , vol.88 , pp. 300-306
    • Molchanova, T.P.1    Pobedimskaya, D.D.2    Huisman, T.H.3
  • 19
    • 78549257049 scopus 로고    scopus 로고
    • Molecular basis and hematological features of hemoglobin variants in Southern Thailand
    • Saechan V, Nopparatana C, Nopparatana C, et al. Molecular basis and hematological features of hemoglobin variants in Southern Thailand. Int J Hematol 2010;92:445-50.
    • (2010) Int J Hematol , vol.92 , pp. 445-450
    • Saechan, V.1    Nopparatana, C.2    Nopparatana, C.3
  • 20
    • 79951675840 scopus 로고    scopus 로고
    • Hemoglobin O Indonesia in India: A rare observation
    • Chopra A, Fisher C, Khunger JM, et al. Hemoglobin O Indonesia in India: a rare observation. Ann Hematol 2011;90:353-4.
    • (2011) Ann Hematol , vol.90 , pp. 353-354
    • Chopra, A.1    Fisher, C.2    Khunger, J.M.3
  • 21
    • 84863565058 scopus 로고
    • Varanti emoglobiniche nella populazione tribal dell' Andhra P. Molteplicita del locus a Hb nell'como
    • Bernini LF, De Jong WW, Khan MP. Varanti emoglobiniche nella populazione tribal dell' Andhra P. Molteplicita del locus a Hb nell'como. Atti Assoc Genet Ital 1970;15:191-4.
    • (1970) Atti Assoc Genet Ital , vol.15 , pp. 191-194
    • Bernini, L.F.1    De Jong, W.W.2    Khan, M.P.3
  • 22
    • 0016609527 scopus 로고
    • Hemoglobin Koya Dora: High frequency of a chain termination mutant
    • De Jong WW, Khan PM, Bernini LF. Hemoglobin Koya Dora: high frequency of a chain termination mutant. Am J Hum Genet 1975;27:81-90.
    • (1975) Am J Hum Genet , vol.27 , pp. 81-90
    • De Jong, W.W.1    Khan, P.M.2    Bernini, L.F.3
  • 23
    • 77954843771 scopus 로고    scopus 로고
    • Hb Koya Dora [α142, Term→Ser (TAA> TCA in a2)]: A rare mutation of the α2 gene stop codon associated with a-thalassemia
    • Brennan SO, Ryken S, Chan T. Hb Koya Dora [α142, Term→Ser (TAA> TCA in a2)]: A rare mutation of the α2 gene stop codon associated with a-thalassemia. Hemoglobin 2010;34:402-5.
    • (2010) Hemoglobin , vol.34 , pp. 402-405
    • Brennan, S.O.1    Ryken, S.2    Chan, T.3
  • 24
    • 0015217427 scopus 로고
    • Hemoglobin- H disease due to a unique hemoglobin variant with an elongated α chain
    • Milner PF, Clegg JB, Weatherall DJ. Hemoglobin- H disease due to a unique hemoglobin variant with an elongated α chain. Lancet 1971;1:729-32.
    • (1971) Lancet , vol.1 , pp. 729-732
    • Milner, P.F.1    Clegg, J.B.2    Weatherall, D.J.3
  • 25
    • 0015218943 scopus 로고
    • Hemoglobin Constant Springda chain termination mutant?
    • Clegg JB, Weatherall DJ, Milner PF. Hemoglobin Constant Springda chain termination mutant? Nature 1971;234:337-40.
    • (1971) Nature , vol.234 , pp. 337-340
    • Clegg, J.B.1    Weatherall, D.J.2    Milner, P.F.3
  • 26
    • 0015106044 scopus 로고
    • An unusual hemoglobin anomaly and its relation to α-thalassemia and hemoglobin- H disease
    • Efremov GD, Wrightstone RN, Huisman TH, et al. An unusual hemoglobin anomaly and its relation to α-thalassemia and hemoglobin- H disease. J Clin Invest 1971;50:1628-36.
    • (1971) J Clin Invest , vol.50 , pp. 1628-1636
    • Efremov, G.D.1    Wrightstone, R.N.2    Huisman, T.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.