Analysis of thalassemia genotypes in south of Sichuan region / 国际检验医学杂志

ABSTRACT

Objective To investigate the types and frequency of gene mutations of β‐thalassemia in south of Sichuan area ,so as to provide basis for β‐thalassemia prevention plan and to help drop β‐thalassemia incidence effectively .Methods Polymerase chain reaction(PCR)and reverse dot blot(RDB)techniques were employed to perform diagnostic analysis for β‐thalassemia genes in sus‐pected thalassemia patient in south of Sichuan region.Results The detection rate of β‐thalassemia was 60 .1% among 319 cases ;9 genes mutation types was found among 17β‐thalassemia genes mutation types .Three types of gene mutations had highest frequency of occurrence ,followed by CD17 41 .3% ,CD41‐42 27 .39% ,IVS‐Ⅱ‐654 24 .35% .Conclusion The gene mutation rate of β‐thalasse‐mia are higher in south of Sichuan region .In order to prevent the birth of children with intermedial and major thalassemia ,the sig‐nificance is important to strengthen hematology screenings and genetic diagnosis for β‐thalassemia.