Mutations in the Paralogous Human α-globin Genes Yielding Identical Hemoglobin Variants


Show simple item record Moradkhani, Kamran en_US Préhu, Claude en_US Old, John en_US Henderson, Shirley en_US Balamitsa, Vera en_US Luo, Hong-Yuan en_US Poon, Man-Chiu en_US Chui, David H. K. en_US Wajcman, Henri en_US Patrinos, George P. en_US 2012-01-09T20:51:27Z 2012-01-09T20:51:27Z 2008-10-16 en_US
dc.identifier.citation Moradkhani, Kamran, Claude Préhu, John Old, Shirley Henderson, Vera Balamitsa, Hong-Yuan Luo, Man-Chiu Poon, David H. K. Chui, Henri Wajcman, George P. Patrinos. "Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants" Annals of Hematology 88(6): 535-543. (2008) en_US
dc.identifier.issn 1432-0584 en_US
dc.description.abstract The human α-globin genes are paralogues, sharing a high degree of DNA sequence similarity and producing an identical α-globin chain. Over half of the α-globin structural variants reported to date are only characterized at the amino acid level. It is likely that a fraction of these variants, with phenotypes differing from one observation to another, may be due to the same mutation but on a different α-globin gene. There have been very few previous examples of hemoglobin variants that can be found at both HBA1 and HBA2 genes. Here, we report the results of a systematic multicenter study in a large multiethnic population to identify such variants and to analyze their differences from a functional and evolutionary perspective. We identified 14 different Hb variants resulting from identical mutations on either one of the two human α-globin paralogue genes. We also showed that the average percentage of hemoglobin variants due to a HBA2 gene mutation (α2) is higher than the percentage of hemoglobin variants due to the same HBA1 gene mutation (α1) and that the α2/α1 ratio varied between variants. These α-globin chain variants have most likely occurred via recurrent mutations, gene conversion events, or both. Based on these data, we propose a nomenclature for hemoglobin variants that fall into this category. ELECTRONIC SUPPLEMENTARY MATERIAL. The online version of this article (doi:10.1007/s00277-008-0624-3) contains supplementary material, which is available to authorized users. en_US
dc.description.sponsorship FP6 eInfrastructure for Thassaemia Research Network (RI-2004-026539); ITHANET en_US
dc.language.iso en en_US
dc.publisher Springer-Verlag en_US
dc.rights Copyright The Author(s) 2008 en_US
dc.subject α-Globin genes en_US
dc.subject Paralogues en_US
dc.subject Gene conversion en_US
dc.subject Hemoglobin variants en_US
dc.subject Mutations en_US
dc.title Mutations in the Paralogous Human α-globin Genes Yielding Identical Hemoglobin Variants en_US
dc.type article en_US
dc.identifier.doi 10.1007/s00277-008-0624-3 en_US
dc.identifier.pubmedid 18923834 en_US
dc.identifier.pmcid 2690850 en_US

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