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本文总结了新疆地区异常血红蛋白的调查结果,调查包括来自31个县(市)共21个民族的117,847人。发现了异常血红蛋白和地中海贫血共710例。对其中52例先证者进行了血液学和生物化学检查,临床和家系调查。调查结果示异常血红蛋白的总发生率为4.23‰。从21个民族中的8个民族共检出异常血红蛋白17种,发生率为0.21～12.83‰。新疆所检出的异常血红蛋白以D组为主,约占总数的61.32％。上述结果说明,新疆为我国异常血红蛋白高发地区之一,并有其一定的民族和地城特征。文中对所检出异常血红蛋白的类型、分布、临床和遗传学表现进行了讨论。
This article summarizes the findings of abnormal hemoglobin in Xinjiang, including 117,847 people from 21 ethnic groups in 31 counties (cities). A total of 710 cases of abnormal hemoglobin and thalassemia were found. Among them, 52 cases of probands underwent hematological and biochemical tests, clinical and pedigree investigations. The survey showed that the overall incidence of abnormal hemoglobin was 4.23 ‰. A total of 17 abnormal hemoglobins were detected from 8 ethnic groups in 21 ethnic groups, the incidence rate was 0.21 ~ 12.83 ‰. Abnormal hemoglobin detected in Xinjiang D group, accounting for 61.32% of the total. The above results show that Xinjiang is one of the regions with high incidence of abnormal hemoglobin in our country and has certain national and city characteristics. The types, distribution, clinical and genetic manifestations of abnormal hemoglobin detected were discussed in this paper.