Abstract
In this study we here present the first report of the detection of the rare beta-thalassemia mutation in the Taiwanese population: Hemoglobin Hammersmith (Hb Hammersmith). The mutation was detected by denaturing high-performance liquid chromatography (DHPLC) screening followed by automated direct sequencing. The mutation was found in an affected woman and her immature female fetus in the heterozygous state. Molecular abnormality of Hb Hammersmith results from an abnormal beta chain with an amino acid substitution (condon 42, TTT→TCT, Phe→Ser) in the beta-globin (HBB) gene with the clinical presentation of hemolytic anemia. Given known wide spectrum of beta-thalassemia alleles in the Taiwanese population, the present report further confirmed the high heterogeneity rate. This result indicated that the importance of the efficient screening approach by DHPLC for genetic diagnosis in beta-thalassemia.
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