Genetic diagnosis of 4 304 thalassemia cases in a coastal area of Qinzhou city

Objective To understand the constituent ratios of thalassemia mutation gene in Qinzhou City,a coastal area.Methods The hasband or wife or the couples positive for thalassemia detected during voluntarily seeking medical consultation in the hospital were selected genetic mutation analysis by using PCR or PCR combined with reverse dot blot(RDB) technology.Results Totally 4 304 persons were screened and 3 033 thalassemia carriers were detected including 1 848a-Mediterranean α–gene carriers and 904 β–thalassemia gene carriers and 281α,β-thalassemia gene carriers.Three common a-thalassemia deletion mutation frequency were--SEA(63.22%);-a 3.7(12.45%)and-a4.27(14%;3).Three common a-thalassemia nondeletion mutation frequency were ααWS /αα(5.35%),ααCS /αα(8%) and ααQS /αα(1.46%);13 beta gene mutation were detected and the constituent ratio of 7 commonβ-thalassemia gene mutation types were 41-42(44.64%) 17 M(22.79%)and 28M(9.9%),654M(7.85%)βBE(6.92%)71-72M and(4.22%).IVS-1-1M accounted for 1.56% and under 1% for others.The detection was found in a variety of forms of thalassemia gene carriers,including-SEA genotypeof/ααCS,-α4.2/ααWS,-α3.7/ ααCS9,-SEA/ααWS,-α3.7/ααWS,-α4.2/ααCS,-α3.7/ααQS etc.Conclusion The distribution features of genetic mutation of thalassemia in coastal area of Qinzhou City have been revealed to have provided valuable information for thalassemia consultation,prenatal screening and prevention of the disease.