广西南宁市农村育龄人群地中海贫血筛查及基因型和血液学参数分析

目的调查南宁市农村育龄人群地中海贫血（地贫）基因携带率和基因型，分析地贫血液学参数变化特点。方法以血红蛋白（Hb）自动分析仪．VARIANT（HPLC）和Cell Dyn1700全自动血细胞分析仪检测育龄青年2044例，其中430例（地贫筛查中随机选择的75对夫妇以及血细胞分析提示夫妇双方或一方为地贫表型阳性的育龄夫妇140对）同步进行地贫基因分析。结果检出8地贫163例，8地贫基因携带率7．97％，检出HbH病13例，Hb Manitoba2例，HbJ 2例，HbQ1例。α地贫2基冈型以-α^3.7／αα、-α^CS／αα和-α^WS／αα居多，α地贫1以—^SEA／αα为主，β地贫杂合子以41-42为主，α、β复合型地贫有较高的检出率。所有HbH病和β地贫平均红细胞体积（MCV）和平均红细胞Hb含量（MCH）均降低，86例α地贫1中除1例MCH正常外均降低，而66例α地贫2中17例MCV和MCH均正常，69例β地贫杂合子中有32例HbF增高，但没有一例只有HbF增高而HbA2不增高，α、β复合型地贫主要呈现β地贫血液学特点。结论南宁市农村育龄人群地贫基因携带率高，-α^WS／αα和-α^CS／αα基因型α地贫2较多，高发区MCV和MCH降低应疑为地贫。

Study on the screening program of thalassemia and the genotype and hematologic parauneter among people of productive age in a village, Nanning Guangxi

OBJECTIVE: To investigate the carrier ratio and the genotype of thalassemia in the rural people of reproductive age in Nanning, and to analyze the characteristics of hematologic parameter in thalassemia carriers. METHODS: 2044 cases of productive age youths were detected with hemoglobin autoanalyse-Variant (HPLC) and Cell Dyn 1700 automatic hemocyte analysator. Among them,430 cases (75 couples randomly selected in thalassemia screening, 140 couples who were told that one or both of them were positive for thalassemia phenotype through hemocyte analysis) carried out thalassemia gene detection in synchronism. RESULTS: 163 cases were detected beta-thalassemia and the thus beta-thalassemia carrier ratio was 7.97%. 13 cases were detected HbH disease, and 2 cases Hb Manitoba, 2 cases HbJ, and 1 case HbQ. As for genotypes,-alpha (3.7)/alpha,-alpha(CS)/alphaalpha and -alpha(WS)/alphaalpha were common ones with in alpha-thalassemia-2, --(SEA)/alphaalpha the most common one in alpha-thalassemia-1, and 41-42 were the most common ones in beta-thalassemia heterozygotes. The detection ratio of alpha,beta combination thalassemia was also relatively high. Mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were low in all cases of HbH disease and beta-thalassemia, also low in 86 cases of alpha-thalassemia-1 with the exception of normal MCH in 1 case, yet normal in 17 cases out of 66 cases of alpha-thalassemia-2. HbF raised in 32 cases out of 69 cases of beta-thalassemia heterozygote, no case showed raised HbF without the raise of HbA2. Hematologic characteristic of alpha, beta combination thalassemia was mainly caused by beta-thalassemia. CONCLUSION: Carrier ratio of thalassemia in rural productive age youths in Nanning was high while alpha-thalassemia-2 with the genotype -alpha(WS)/alphaalpha and -alpha(CS)/ alphaalpha were common. To those with low MCV and MCH in high-risk region, thalassemia should be suspected.