A comprehensive, simple molecular assay of common deletions and mutations causing alpha-thalassemia in Southeast Asia and southern China.

摘要

Alpha-Thalassemia is the most common recessively inherited hemoglobin disorder [1]. In Southeast Asia and southern China, most alpha-thalasse-mia is caused by deletion of one (-alpha~(4.2)/, -alpha~(3.7)/; termed alpha-thalassemia-2) or both (--SEA, --THAI; termed alpha-thalassemia-1) of the two functional alpha-globin genes (see Fig. 1) [2,3] and by nondeletional mutations [4]. A rapid assay is needed to address the diagnostic challenges of identifying both deletions and mutations. Hung et al. [5] reported a molecular assay to detect deletions in a single PCR based on DHPLC, but the assay can distinguish only two genotypes, -alpha~(3.7)/alphaalpha and -alpha~(4.2)/ alphaalpha.