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目的:了解云南三边境州10个特有少数民族的7岁以下儿童血红蛋白病和G6PD缺乏症的现状。方法:血红蛋白病检测:对调查者应用日本SysmexKX-21N和迈瑞-2000血细胞分析仪进行血细胞分析,醋酸纤维薄膜电泳检测血红蛋白,DNA序列分析及ARMS基因检测;G6PD缺乏症检测采用改良葡萄糖6-磷酸脱氢酶(G6PD)比值法。结果:地贫检出率以德宏州最高(46.2%),怒江州最低(30.6%),版纳州居中。β-地贫以阿昌族居首位40.6%(39/96),独龙族最低为2.5%(5/204)。α-地贫以版纳傣族最高为22.1%(266/1 204),其次为独龙族19.1%(39/204)。G6PD缺乏症检出率德宏州为6.7%(146/2 190),版纳州为2.2%(60/2 780),怒江州为1.0%(14/1 407)。G6PD缺乏症以德昂族最高为8.6%(30/349),其次为阿昌族7.3%(19/261)。异常血红蛋白检出率为2.4%。结论:血红蛋白病和G6PD缺乏症在云南省三边境州10个特有少数民族7岁以下儿童属高发,血红蛋白病和G6PD缺乏症的人群地理分布与历史上疟疾流行的地理分布存在着一定的相关性。
Objective: To investigate the current situation of hemoglobinopathies and G6PD deficiency in children under 7 years of age in 10 endemic minorities in Yunnan’s tri-state border. Methods: Hemoglobinopathies were measured: blood samples were analyzed by using SysmexKX-21N and Mindray-2000 hematology analyzers, hemoglobin was detected by cellulose acetate membrane electrophoresis, and DNA sequence analysis and ARMS gene test were performed. The detection of G6PD deficiency was carried out by using modified glucose 6-phosphate Dehydrogenase (G6PD) ratio method. Results: The detection rate of thalassemia was the highest in Dehong Prefecture (46.2%), the lowest in Nujiang Prefecture (30.6%), and the highest in Banna Prefecture. β-thalassemia is the first place in the Achang family with 40.6% (39/96) and the lowest in the Dragon family with 2.5% (5/204). In the α-thalassemia, the highest level was 22.1% (266/1 204) in Dai, and 19.1% (39/204) in Dulong. The prevalence of G6PD deficiency was 6.7% (146/2 190) in Dehong Prefecture, 2.2% (60/2 780) in Banana Prefecture and 1.0% (14/1 407) in Nujiang Prefecture. The G6PD deficiency is highest in De’ang, 8.6% (30/349), followed by 7.3% in Achang (19/261). Abnormal hemoglobin detection rate of 2.4%. CONCLUSIONS: Hemoglobinopathies and G6PD deficiency are endemic in 10 endemic minorities in the tri-state state in Yunnan Province. The geographical distribution of hemoglobinopathies and G6PD-deficient populations is related to the geographical distribution of malaria epidemic historically .