2659例地中海贫血基因检测结果分析

Analysis of Thalassemia Gene Diagnosis in 2659 Cases

目的对来我院进行地中海贫血基因检测的2659位患者的结果进行回顾性分析。方法缺失型α地中海贫血基因检测采用跨越断裂点PCR技术,非缺失型α地中海贫血基因和β地中海贫血基因的检测采用反向斑点杂交技术进行检测,罕见地中海贫血基因采用多重连接探针扩增技术和基因测序进行检测。结果在2659位患者中,共检出地贫患者143例,检出率为53.78%,其中常见型α地贫907例,检出率为34.18%,静止型α地贫294例(32.41%),标准型α地贫543例(59.87%),中间型α地贫70例(7.72%)。常见型β地贫419例,检出率为15.76%,主要以基因型βCD41-42/βN 146例(34.84%)和基因型βIVS-Ⅱ-654/β N 87例(20.76%)为主,α地贫复合β地贫60例,占4.33%。罕见型地贫基因44例,检出率为1.65%。结论清远地区地贫基因检出率高,孕龄夫妻进行地中海贫血基因诊断至关重要,它可以为孕龄夫妻提供地中海贫血产前基因诊断依据,有效地防止重症地中海贫血患儿的出生。

Objective:The results of thalassemia gene diagnosis in 2659 cases were analyzed retrospectively.Methods:The deletions of α thalassemia were detected by Gap-PCR,the mutations of α thalassemia and β thalassemia were detected by RDB,the rare thalassemia gene was detected by multiplex ligation probe amplification and gene sequencing.Results:In 2659 samples,1386 thalassemia were detected totally,the detection rate was 53.78%,Among them,907 cases were α-thalassemia,the detection rate was 34.15%,among which 294 cases(32.41%)were static α-thalassemia,543(59.87%)were standard α-thalassemia,70 cases were Hb H disease(7.72%),419 cases were β-thalassemia,the detection rate was 15.76%,the most common mutation subtype was βCD41-42/βN(34.84%),followed by βIVS-Ⅱ-654/β N(20.768%),60 cases were α-thalassemia and β-thalassemia,accounting for 4.33%.There were 44 cases of rare thalassemia gene,the detection rate was 1.65%.Conclusion:The detection rate of thalassemia gene is high in Qingyuan area.It is very important for pregnant couples to diagnose thalassemia gene.It can provide the basis for prenatal diagnosis of thalassemia for pregnant couples and effectively prevent the birth of children with severe thalassemia.