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目的研究广西柳州地区αβ复合型地中海贫血(地贫)基因突变类型及检出率。方法采用膜反向杂交技术检测β地贫基因。用gap-PCR法检测三种常见α地贫缺失基因型:东南亚型缺失(--SEA)、右侧缺失(-α3.7)、左侧缺失(-α4.2)。结果153例β地贫中检测出30名α地贫,检出率为19.61%。均为轻型β地贫复合α地贫,其中β地贫杂合子复合--SEA/αα占90.00%,β地贫杂合子复合-α3.7/αα占3.33%,β地贫杂合子复合-α4.2/αα占6.67%。结论广西柳州地区αβ复合型地贫检出率高。--SEA/αα是本地区β地贫杂合子检出的主要复合α地贫基因型。准确诊断β地贫合并α地贫双重杂合子对正确进行遗传咨询,搞好优生优育十分重要。
Objective To study the mutation types and detection rates of αβ-thalassemia gene in the Liuzhou area of Guangxi. Methods The β-thalassemia gene was detected by membrane reverse hybridization. The three common ALT deletion genotypes were detected by gap-PCR: deletion of SEA (--SEA), deletion of right (-α3.7), deletion of left (-α4.2). Results A total of 30 α-thalassemia were detected in 153 cases of β-thalassemia. The detection rate was 19.61%. Among them, β thalassemia heterozygote was 90.00%, β thalassemia heterozygote -α3.7 / αα was 3.33%, β thalassemia heterozygote - α4.2 / αα accounted for 6.67%. Conclusion The detection rate of αβ complex type thalassemia is high in Liuzhou, Guangxi. --SEA / αα is the major composite α-thalassemia genotype detected by thalassemia heterozygotes. Accurate diagnosis of β-thalassemia combined with α-thalassemia heterozygotes for genetic counseling correctly and do a good job of prenatal and postnatal care is very important.