Abstract
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 (–α3.7, −α4.2, ααWestmead and ααCS) 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.