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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β0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,β0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,β0/β+双重杂合子69例(12种基因型),β0/β0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,β0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。
Objective To investigate the gene mutation types and clinical phenotypes of β-thalassemia. Methods A total of 17 kinds of β-thalassemia genes were detected by reverse dot blot hybridization in 8 common loci and 9 rare loci in Chinese population. The genotype and clinical phenotype of β thalassemia were analyzed. Results 1082 cases of β-thalassemia were found, and 10 types of mutations were detected, which were β41, CD41-42, CD17, CD27-28, CD71-72, CD43 and β + IVS-2-654, -29, -28, IVS-1-1 as well as beta-thalassemia abnormal hemoglobin E (CD26). There were 9 genotypes in 814 heterozygous β-thalassexis, 637 β0 heterozygotes (5 genotypes), 122 β genotypes (3 genotypes) and 55 hemoglobin E (HbE). 146 cases of double heterozygote β-thalassemia, 69 cases of β0 / β double heterozygote (12 genotypes), 73 cases of β0 / β0 double heterozygote (7 genotypes) and 4 cases of β / β double heterozygote (4 genotypes). 82 cases of homozygous β-thalassemia, 77 cases of β0 homozygote β-thalassemia (3 genotypes) and 5 cases of β homozygotes (1 genotype). β thalassemia complex HbE 40 cases (5 genotypes). CONCLUSION: The type of thalassemia gene mutation is consistent with the previously reported β-thalassemia gene in Guangxi. The clinical phenotype of β-thalassemia is complex and variable. The detection of gene is of great significance in the diagnosis, treatment and prevention of thalassemia.