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目的对血红蛋白电泳时HbA2在正常范围内的β地中海贫血的基因突变类型进行分析。方法对所有的标本进行血常规、血红蛋白电泳,PCR-反向斑点杂交同时检测17种中国人常见的β地中海贫血基因突变确定其基因型,对于经常规基因检测不能确诊的基因突变,采用直接测序法。结果 1084例确诊为轻型β地中海贫血的标本中,血红蛋白电泳时1018例HbA2≥3.5%,占93.91%,66例<3.5%,占6.09%,这66例轻型β地中海贫血有9种基因突变类型,分别为:CD41-42(-TTCT)35例、CD17(A→T)15例、IVS-Ⅱ-654(C→T)4例、-28(A→G)4例、CD71-72(+A)3例、CD43(G→T)2例、IVS-Ⅰ-1(G→T)1例、-29(A→G)1例、CD31(-C)1例。结论血红蛋白电泳时HbA2在正常范围内并不能完全排除轻型β地中海贫血,轻型β地中海贫血的诊断需结合血常规、血红蛋白电泳、基因检测等综合分析,以避免漏诊、误诊。
Objective To analyze the types of β-thalassemia mutations in the normal range of HbA2 during hemoglobin electrophoresis. Methods The blood samples, hemoglobin electrophoresis and PCR-reverse dot blot were used to detect all the 17 Chinese common β-thalassemia mutations, and the genotypes were determined. For those gene mutations that could not be confirmed by routine gene detection, direct sequencing law. Results In 1084 cases of diagnosed as mild β-thalassemia, 1018 HbA2≥3.5%, accounting for 93.91%, 66 cases <3.5%, accounting for 6.09% of the total. Of the 66 cases of β-thalassemia minor, 9 types of mutations , There were 35 cases of CD41-42 (-TTCT), 15 cases of CD17 (A → T), 4 cases of IVS-Ⅱ-654 (C → T), 4 cases of -28 (A → G), CD71-72 + A), 1 case of CD43 (G → T), 1 case of IVS-Ⅰ-1 (G → T), 1 case of -29 (A → G) and 1 case of CD31 (-C) Conclusions HbA2 in hemoglobin electrophoresis does not completely exclude β-thalassemia in the normal range. The diagnosis of β-thalassemia should be combined with blood tests, hemoglobin electrophoresis, and genetic testing to avoid misdiagnosis and misdiagnosis.