Genotypic and phenotypic analysis of pregnant women with β-thalassemia gene carrying in Chengdu area / 国际检验医学杂志

ABSTRACT

Objective To investigate the differences in genotypes and phenotypic parameters of β-thalassemia gene carriers in pregnant women′s from Chengdu, Sichuan Province.Methods Totally 320pregnant women′s withβ-thalassemia gene from March 2016to June 2017in our hospital were selected.Routine blood tests, alkaline hemoglobin electrophoresis and routine analysis ofβ-thalassemia were performed on all the cases.Statistical analysis was performed on the data of each group.Results There were 306cases of heterozygousβmutations and 10types of mutations, among which 14cases ofα-thalassemia combined had 6types of mutations.The mutations of MCV, MCH, MCHC, and Hb in the routine blood tests of each group showed some differences.The incidence of abnormal bands was also different for each mutation, and the hemoglobin electrophoresis results ofβEM mutations contained abnormal bands.However, the clinical manifestations of CAPM mutations were not obvious and easily missed.Conclusion There is a certain regional specificity inβthalassemia gene carrying in Chengdu area.Targeted examination in the preliminary screening and prenatal diagnosis should be conducted so as to reducing the birth rate of children′s with severe thalassemia.