To investigate the distribution of gene mutation types of α、β-thalassemia in part regions of Jiangxi province (including Ganzhou, Nanchang, Yichun, Ji′an and Pingxiang), so as to provide reference basis for thalassemia prevention.

Blood samples from 3178 patients were collected. Gap-PCR and RDB-PCR method were used to detect the gene mutation of thalassemia samples.

In 3178 specimen, 1630 were detected as thalassemia carrier, including 915 were detected as α-thalassemia, accounting for 56.13%, 657 were detected as β-thalassemia, accounting for 40.31%, and 58 were α-thalassemia combined with β-thalassemia, accounting for 3.56%. The αα/--SEA mutation was the dominant type in α-thalassemia, the IVS-Ⅱ-654、CD41-42 heterozygous mutation were the dominant type in β-thalassemia, the --SEA/β-thalassemia mutation were the dominant type in α-thalassemia combined with β-thalassemia. There was no significant difference of thalassemia positive rate (χ²=0.021, 0.181, P>0.05) between the adult group and the infant group, the children group.

The carrying rate of gene mutation in thalassemia was relatively high in some areas of Jiangxi Province, great attention should be paid to this phenomenon. Premarital screening and prenatal diagnosis should be strengthened to provide effective guidance for the prevention of the birth of children with thalassemia.