海南黎族成人血红蛋白含量及地中海贫血基因频率的调查

Survey of the hemoglobin and gene frequency of thalathemia in Li Nationality people in Hainan Province.

目的 了解海南黎族人健康营养状况和地中海贫血的发病情况。 方法 对海南保亭、陵水、昌江和白沙等黎族自治县的居民进行了抽样调查 ,采用氰化高铁比色法、等离子发射光谱法和聚合酶链式反应分别测定了 5 92例黎族成人血红蛋白、血清五种微量元素含量及地中海贫血基因突变的发生率。 结果 黎族人血红蛋白含量比正常值低 ,贫血发生率男性为 60 % ,女性为 63 % ;血清Zn明显低于汉族人 (P <0 0 1)、血清Ca明显高于汉族人 (P <0 0 5 ) ,而血清Fe、Cu、Mn与汉族人相比无显著差异 ;黎族地中海贫血基因突变的发生率为 64 8% ,其中轻型α -地中海贫血杂合子占 47 6% ,HbH病占 6 4% ,β41/4 2基因突变占 10 8%。汉族地中海贫血基因突变的携带率为 10 4% ,其中α -地中海贫血杂合子占 3 6% ,Hb -H病占0 76% ,汉族 β41/4 2基因突变占 6 1%。 结论 黎族成年人贫血发病率高于当地的地中海贫血发生率 ,贫血的发生除了地中海贫血外可能还与锌缺乏也有关。地中海贫血的基因突变的发生率比汉族突变率高 ;海南黎族 β地中海贫血的基因突变均为CD41-4 2 ( -CTTT)突变而其他类型较为罕见 ,CD41-4 2 ( -CTTT)突变是海南人群的主要类型。

Objective To study health status and gene carrying rate of thalassemia in Li Nationality of Hainan Prorince. Method Sampling survey was made for detection of thalassemia patients of Li Nationality in Baoting, Lingshui, Chuangjiang and Baishai County of Haman. Hydroferricyanate colorimetry, plasma emission spectrometric method and polymerase chain reaction(PCR) were used for determination of hemoglobin, zinc, iron, manganese, calcium, copper in serum and incidence of thalassemia in 592 Li Nationalities of Hainan Prorince. Results The content of hemoglobin was lower than that of normal value. The incidence rate of anemia in female Li National was 57% and 56% in males. The levels of zinc were significantly lower in Li Nationality than that of Han Nationality, and the levels of calcium were significantly higher in Li Nationality than that of Han Nationality. The levels of iron, manganese and copper in serum were normal. The incidence rate of gene mutation thalassemia of Li Nationality was 64.8%, in which 47.6% of α-thalassemia and 6.4% of Hb H disease.The carrying rate of β 41/42 gene mutation was 10.8%. The incidence rate of gene mution in thalassemia of Han Nitionality was 10.4%, in which 3.6 % of α-thalassemia heterozygous and 0.76% of Hb-H disease. The carrying rate of β 41/42 gene mutation was 6.1% in Han natinality. Conclusion There was a high anemia rate and incidence of thalassemia in Li nationality than that of Han nationality. The one cause of anemia in Li nationality may be due to deficiency of zinc mutation thalassemia. The incidence rate of gene mutation in thalassemia of LiNationality was higher than that of Han Nationality. All gene mutation of Li nationality was CD41-42 (-CTTT) mutation and it was the main type mutation in Hainan peoples.