Article
A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia.
Genomics - 1 Sept 2006
Jamsai Duangporn, Zaibak Faten, Vadolas Jim, Voullaire Lucille, Fowler Kerry J, Gazeas Sophie, Peters Heidi, Fucharoen Suthat, Williamson Robert, Ioannou Panayiotis A
Abstract excerpt
Hemoglobin E (HbE) is caused by a G-->A mutation at codon 26 of the beta-globin gene, which substitutes Glu-->Lys. This mutation gives rise to functional but unstable hemoglobin and activates a cryptic splice site causing mild anemia. HbE reaches a carrier frequency of 60-80% in some Southeast Asian populations. HbE causes serious disease when co-inherited with a beta-thalassemia mutation. In this study, we...
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