Analysis of thalassemia-related mutations in Pingxiang area of Jiangxi / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To study the distribution of α- and β -thalassemia-related mutations in Pingxiang area of Jiangxi Province, China.@*METHODS@#PCR and reverse dot blotting (PCR-RDB) were carried out to detect common mutations of α and β globin genes among 2558 individuals with positive results of primary screening.@*RESULTS@#The PCR-RDB assay has identified 1222 carriers of thalassemia-related mutations, which yielded a detection rate of 47.8%. Among these, 645 individuals (including homozygous patients) have carried α globin gene mutations, with the common types including -αSEA/αα, -α/αα and -α/αα. 539 individuals have carried β globin gene mutations, with the common types including IVS-Ⅱ-654, CD41-42, CD17, CD28, CD27-28, βE, and CD71-72. Thirty eight individuals (1.5%) have carried α and β globin gene mutations simultaneously.@*CONCLUSION@#The carrier rate for α and β globin gene mutations in Jiangxi is high. Attention should be paid to newborn screening as part of the birth defect prevention and control program in order to reduce the birth rate of thalassemia in this region.