Molecular epidemiological study of α-thalassemia in Shaoguan city of Guangdong

Objective To investigate the gene frequencies and mutation patterns of α-thalassemia in Shaoguan city of Guangdong province.Methods A large sample of umbilical blood specimens were collected randomly from individuals in city and town areas of Shaoguan.Hemoglobin electrophoresis analysis was performed for all the samples.With Hb Bart's,α-thal indicator was further detected using PCR DNA analysis.In adition,-α 3.7 and -α 4.2 alleles were screened using Gap-PCR in all DNA samples.Results Of the 1006 random samples of umbilical blood screened ,64 were detected positive with Hb Bart's,100 were found to be carriers of α-thal.The α-thal incidence is as high as 10.23%.In this investigation,four well-known types of α-thal alleles were detected including 50.48% of -- SEA deletion,40.00% of -α 3.7 deletion,4.76% of -α 4.2 deletion and 2.86% of α CS α mutation.Conclusion Our findings α-thal gene frequenceies and mutation spectrum in Shaoguan city are useful for genetic counseling and prenatal diagnosis.