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Hb questembert is due to a base substitution (T→C) in codon 131 of the α 2‐globin gene and has an α‐thalassemia biosynthetic ratio

1995; Wiley; Volume: 48; Issue: 4 Linguagem: Inglês

10.1002/ajh.2830480419

1096-8652

J. Rocheite, RA Barnetson, S L Thein, B Varet, Françoise Valensi,

Hemoglobin structure and function

American Journal of HematologyVolume 48, Issue 4 p. 289-290 Letters and CorrespondenceFree Access Hb questembert is due to a base substitution (T→C) in codon 131 of the α 2-globin gene and has an α-thalassemia biosynthetic ratio J. Rocheite, J. Rocheite INSERM U129, Cochin, Paris, France, MRC Molecular Haematology Unit, institute of Molecular Medicine, Oxford, U.K.Search for more papers by this authorR. Barnetson, R. Barnetson INSERM U129, Cochin, Paris, France, MRC Molecular Haematology Unit, institute of Molecular Medicine, Oxford, U.K.Search for more papers by this authorS. L. Thein, S. L. Thein INSERM U129, Cochin, Paris, France, MRC Molecular Haematology Unit, institute of Molecular Medicine, Oxford, U.K.Search for more papers by this authorB. Varet, B. Varet Service et Laboratoire dH6matologie, Hdpital Necker, Paris, FranceSearch for more papers by this authorF. Valensi, F. Valensi Service et Laboratoire dH6matologie, Hdpital Necker, Paris, FranceSearch for more papers by this author J. Rocheite, J. Rocheite INSERM U129, Cochin, Paris, France, MRC Molecular Haematology Unit, institute of Molecular Medicine, Oxford, U.K.Search for more papers by this authorR. Barnetson, R. Barnetson INSERM U129, Cochin, Paris, France, MRC Molecular Haematology Unit, institute of Molecular Medicine, Oxford, U.K.Search for more papers by this authorS. L. Thein, S. L. Thein INSERM U129, Cochin, Paris, France, MRC Molecular Haematology Unit, institute of Molecular Medicine, Oxford, U.K.Search for more papers by this authorB. Varet, B. Varet Service et Laboratoire dH6matologie, Hdpital Necker, Paris, FranceSearch for more papers by this authorF. Valensi, F. Valensi Service et Laboratoire dH6matologie, Hdpital Necker, Paris, FranceSearch for more papers by this author First published: April 1995 https://doi.org/10.1002/ajh.2830480419Citations: 9AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References 1 Wajcman H, Vasseur C, Blouquit Y, Rosa J, Labie D, Najman A, Reman O, Leporrer M, Galacteros F: Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (α131 [H14] Ser Pro) and Hb Caen (α132[H15] Val Gly). Am J Hematol 42: 367– 374, 1993. 2 Bunn HF, McDonald MJ: Electrostatic interactions in the assembly of human hemoglobin. Nature 306: 498, 1983. 3 Weatherall DJ, Clegg JB, Naughton DG: Globin synthesis in thalassemia: An in vitro study. Nature 208: 1061, 1965. 4 Dodé C, Rochette J, Krishnamoorthy R: Locus assignment of human α globin mutations by selective amplification and direct sequencing. Brit J Haematol 76: 275– 281, 1990. 5 Hall GW, Thein SL, Newland AC, Chisholm M, Traeger-Synodinos J, Kanavakis E, Kattamis C, Higgs DR: A base substitution (T → C) in codon 29 of the α2 globin gene causes α thalassaemia. Brit J Haematol 85: 546– 552, 1993. 6 Cürük MA, Dimovski AJ, Baysal E, Gu LH, Kutlar F, Molchanova TP, Webber BB, Altay C, Gurgey A, Huisman TH: Hb Adana or alpha 2(59)(E8) Gly → Asp beta 2, a severely unstable alpha I-globin variant, observed in combination with the -(alpha)20.5 kb alpha-thal-1 deletion in two Turkish patients. Am J Hematol 44: 270– 275, 1993. 7 Liebhaber SA, Cash FE, Ballas SK: Human α-globin gene expression. The dominant role of the α2-locus in mRNA and protein synthesis. J Biol Chem 261: 15327, 1986. Citing Literature Volume48, Issue4April 1995Pages 289-290 ReferencesRelatedInformation