Zhao Hong-Ying, Ye Xi, Wang Hai-Xia, He Yan-Fen
Department of Tumor and Hematology, The First People's Hospital of Honghe State, Mengzi 661100, Yunnan Province, China.
Department of Hematology, The First Affiliated Hospital of Dali University, Dali 671000, Yunnan Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Apr;29(2):596-620. doi: 10.19746/j.cnki.issn.1009-2137.2021.02.046.
To detecte the carrying rate, the type and distribution of α-Thalassemia gene mutation in Honghe Prefecture, Yunnan Province, and analyze the differences in average erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH) and hemoglobin among different types of α-Thalassemia.
The DNA samples from small cell hypochromic carriers or anemia patients and women of childbearing age who underwent hematological screening in The First People's Hospital of Honghe State was from 2015 to 2019 were enrolled and analyzed, and the mutation types and frequency of alpha-thalassemia positive rate were diagnosed by PCR reverse dot blot or PCR fluorescence dissolution curve.
Among the 1 016 samples, 141(13.88%) of the patients were diagnosed as α-thalassemia. The α-thalassemia was subdivided into 3 types, silent (36.17%), minor (51.77%), and HbH disease (12.06%), and the MCV, MCH and HB levels were detected and showed a obvious decrease trend with significant difference (P < 0.05). The gene mutation types were 9 kinds, the deletion type gene was mainly --SEA (51.06%), followed by -α/αα deletion (29.79%), the α- mutation type gene was mainly αα(3.55%). The absence of complex heterozygote was most common, which was 17 cases, accounting for 12.77%, mainly --/-α (10.64%). The areas were mainly distributed in Mengzi (47.52%), followed by Jinping (17.02%). Ethnic groups were mainly distributed in Han nationality (49.65%), followed by Zhuang (15.60%), Yi (3.48%) and Dai (7.09%). The patients with double heterozygous mutation was slightly higher in Mengzi than that in Jinping County (4.26% vs 3.55%), the Dai (2.13%) showed Zhuang ethnic group (2.13%) had the relatively high incidence except the Hans, and showed the most serious anemia.
Alpha-thalassemia in Honghe prefecture of Yunnan Province shows complex genetic diversity and significant genetic heterogeneity, and the mainly type of gene mutation is --SEA and --/-α, which is mainly distributed in Han, Zhuang and Dai ethnic groups in Mengzi, Jinping. The anemia index of HbH group is the most obvious, and it is significantly different from other groups.
检测云南省红河州α地中海贫血基因突变携带率、类型及分布情况，并分析不同类型α地中海贫血的平均红细胞体积（MCV）、平均红细胞血红蛋白含量（MCH）及血红蛋白差异。
纳入红河州第一人民医院2015年至2019年血液学筛查的小细胞低色素携带者或贫血患者及育龄期女性的DNA样本进行分析，采用聚合酶链反应-反向点杂交法或聚合酶链反应-荧光熔解曲线法诊断α地中海贫血阳性率的突变类型及频率。
1016份样本中，141例（13.88%）患者诊断为α地中海贫血。α地中海贫血分为3型，静止型（36.17%）、轻型（51.77%）、血红蛋白H病（HbH病，12.06%），检测其MCV、MCH及HB水平呈明显下降趋势，差异有统计学意义（P<0.05）。基因突变类型有9种，缺失型基因以--SEA为主（51.06%），其次为-α/αα缺失（29.79%），α突变型基因以αα(3.55%)为主。复合杂合子缺失最为常见，共17例，占12.77%，主要为--/-α(10.64%)。地区主要分布在蒙自（47.52%），其次为金平（17.02%）。民族主要分布在汉族（49.65%），其次为壮族（15.60%）、彝族（3.48%）、傣族（7.09%）。蒙自双杂合突变患者略高于金平县（4.26%比3.55%），傣族（2.13%）除汉族外发病率相对较高，且贫血最严重。
云南省红河州α地中海贫血呈现复杂的遗传多样性及显著的遗传异质性，基因突变类型以--SEA和--/-α为主，主要分布于蒙自、金平的汉族、壮族及傣族。HbH组贫血指标最明显，与其他组差异有统计学意义。
