Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.

ABSTRACT: The human alpha-globin genes are paralogues, sharing a high degree of DNA sequence similarity and producing an identical alpha-globin chain. Over half of the alpha-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 alpha-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 fr

SUBMITTER: Moradkhani K 

PROVIDER: S-EPMC2690850 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature