MOLECULAR SPECTRUM OF α- AND β-GLOBIN GENE MUTATIONS DETECTED IN THE POPULATION OF GUANGXI ZHUANG AUTONOMOUS REGION, PEOPLE'S REPUBLIC OF CHINA

We studied 6,023 individuals diagnosed with anemia on the basis of hematological examinations. The study showed that the frequency of alpha-thalassemia (alpha-thal) carriers was 26.9% and beta-thal carriers comprised 19.9% of the population of Guangxi Zhuang Autonomous Region, People's Republic of China (PCR). The diagnosed alpha-thal anomalies were related to six gene mutations and 16 genotypes, whereas the beta-thal were related to 10 gene mutations and 65 genotypes. The four most common mutations [codons 41/42 (-TTCT), codon 17 (A > T), -28 (A > G) and IVS-II-654 (C > T)] accounted for 86.38% of the beta-globin gene mutations. Risk analysis of mutation alleles in thalassemia cases identified four mutations (-alpha(3.7), -alpha(4.2), alpha alpha(Westmead) and alpha alpha(CS)) that were associated with alpha-thal intermedia, with an odds ratio (OR) of 62.41-32.68. Four high-risk mutations, namely, codon 26 (G > A), -28, codons 41/42 and codon 17, were associated with alpha-thal major (beta-TM), with an OR of 3.93-2.20. The present study provides important genetic information on thalassemia in this population.