β-地中海贫血基因诊断与血红蛋白A_2含量增高程度的关系探讨

Degree of Increased Hemoglobin A_2 and Genetic Diagnosis of βthalassemia

目的 探讨在红细胞脆性降低的人群中β-地中海贫血基因诊断与血红蛋白（Hb）A2含量的增高程度的关系。方法 用一管法测定红细胞脆性，电泳测定HbA2量，对红细胞脆性低且HbA2含量增高的病例应用反向杂交技术进行β-地贫基因检测。 结果 11226例标本中有77例红细胞脆性低且HbA2增高，其中14例HbA2含量在3．5％～4．0％之间，β-地贫检出率14％，63例HbA2含量在4．O％以上其检出率达97％，且其红细胞脆性明显低于其它各组。 结论 HbA2含量增高的程度提示必须进行β-地贫基因诊断。

[Objective]To discuss the relationship between degree of increased HbA2 and genetic diagnosis of β-thalassemia . [Methods]Twelve hundred and twenty-six cases were tested by simgle tube erythrocyte osmotic fragility quantitative test and hemoglobin electrophoresis, 77 cases suspected β-thalassemia were confirmed by genetic diagnosis. [Results]The positive rate of genetic diagnosis of β-thalassemia was 14% while HbA2 was 3.5%-4.0%, and 97% while HbA2 above 4.0%. [Conclusion]There is close relationship between degree of increased hemoglobin A2 and Genetic diagnosis of β-thalassemia.