广西地区β地中海贫血基因突变类型分析

目的探讨β地中海贫血的基因突变类型及临床表现型特点。方法采用反向斑点杂交技术检测中国人群8个常见位点和9个少见位点突变的共17种β地贫基因,分析β地贫基因型与临床表现型特点。结果β地贫1082例,检出10种突变基因类型,分别为β^0的CD41-42、CD17、CD27-28、CD71-72、CD43和β^＋的IVS-2-654、-29、-28、IVS-1-1以及类似β地贫变化异常血红蛋白E（CD26）。814例杂合子β地贫中有9种基因型,β^0杂合子637例（5种基因型）,β^＋杂合子122例（3种基因型）,血红蛋白E（HbE）55例。双重杂合子β地贫146例,β^0/β^＋双重杂合子69例（12种基因型）,β^0/β^0双重杂合子73例（7种基因型）,β^＋/β^＋双重杂合子4例（4种基因型）。纯合子β地贫82例,β^0纯合子β地贫77例（3种基因型）,β^＋纯合子5例（1种基因型）。β地贫复合HbE40例（5种基因型）。结论β地贫基因突变类型与以往报告的广西β地贫基因型一致;β地贫临床表现型复杂多变;基因检测对于地贫的临床诊断、治疗和预防有重要的意义。

Genotypes of β Thalassemia in Guangxi

Objective To explore gene mutation types and phenotypic characteristics of β thalassemia.Methods 17 β thalassemia genes of Chinese population,including 8 common mutation sites and 9 seldom mutation sites were detected by reverse dot blot hybridization.The genotypes and phenotypes were analysed.Results Ten different genotypes were identified in 1082 patients with β thalassemia,namely β^0（CD41-42,CD17,CD27-28,CD71-72,CD43）,β^＋（IVS-2-654,-29,-28,IVS-1-1）,and HbE（CD26）.814 cases were heterozygote β thalassemia（9 genotypes）,637 cases heterozygote β^0（5 genotypes）,122 cases heterotypes β^＋（3 genotypes）,and 55 cases hemoglobin E.146 cases were double heterozygote β thalassemia,69 cases double heterozygote β^0/β^＋（12 genotypes）,73 cases double heterozygote β^0/β^0（7 genotypes）,and 4 cases double heterozygote β^＋/β^＋（4 genotypes）.82 cases were homozygote β thalassemia,77 homozygote β^0 cases（3 genotypes）,and 5 cases homozygote β^＋（1 genotype）.40 cases were β thalassemia complex HbE（5 genotypes）.Conclusion Gene mutation type of β thalassemia was consistent with the past report in Guangxi.In clinic β thalassemia phenotype has obvious multiplicity.Gene testing is important for clinical diagnosis,treatment and prevention of thalassemia.