Molecular Epidemiology Survey of Thalassemia in Shaoguan Region of Guangdong Province

Objective To investigate the α and β thalassemia genotypes and their ratios in Shaoguan region of Guangdong province. Methods Using Gap-PCR to detect--SEA、-α3.7、-α4.2 thalassemia gene and PCR-RDB to detect 17 kinds of β thalassemia gene. Results Thalassemia gene carriers were detected in 1579 cases, α thalassemia were detected in 982 cases(35.68%), eight genotypes. β thalassemia were detected in 597 cases(21.69%), 13 kinds of genotype, α combined β thalassemia were detected in 54 cases(1.96%).Conclusions The major Genotype of α and βthalassemia respectively αα/--SEA、CD41-42(-TTCT)and IVS- Ⅱ-654(C-T) in shaoguan. For the purpose of genetic counseling and the development of thalassemia preventive measures provide a scientific basis.