The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China

This study examines the frequency and spectrum of alpha- and beta-thalassemia (thal) mutations of the Li people in Hainan Province of China. We have analyzed by genotyping a sample of 8600 subjects of the Li people and found that 53.45% subjects have only alpha-thal mutations with high frequencies of alpha(4.2) and alpha(3.7), but fewer --(SEA) mutation; 3.83% have beta-thal mutations all identified to be 41/42 (-TCTF); whereas 7.99% carry both a-thal and beta-thal mutations. We also examined 9800 subjects of the Han people, and the result showed 12.16% subjects have only alpha-thal mutations with --(SEA) and alpha(3.7) the most frequent mutation types, 6.11% have only beta-thal mutations of 7 types, whereas 4.85% carry both alpha-thal and beta-thal mutations. Our study demonstrated that the Li people in Hainan province have a high incidence of -alpha(4.2) and -alpha(3.7) thalassemia, low frequencies of alpha-thal --(SEA), and a novel beta mutation, 41/42 (-TCTT). We provide the complete spectrum of a-thal and beta-thal mutations and a strategy for accurate molecular diagnostic testing in the Li people in Hainan Province of Southern China. (C) 2014 Elsevier Inc. All rights reserved.