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 α-thalassemia (α-thal) carriers was 26.9% and β-thal carriers comprised 19.9% of the population of Guangxi Zhuang Autonomous Region, People's Republic of China (PCR). The diagnosed α-thal anomalies were related to six gene mutations and 16 genotypes, whereas the β-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 β-globin gene mutations. Risk analysis of mutation alleles in thalassemia cases identified four mutations (-α(3.7), -α(4.2), αα(Westmead) and αα(CS)) that were associated with α-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 β-thal major (β-TM), with an OR of 3.93-2.20. The present study provides important genetic information on thalassemia in this population.