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To investigate the gene-carrying rate and gene mutation types of α- and β-thalassemia in population of Fujian area and to analyze the differences in hemoglobin A2 (HbA2), mean cell volume (MCV) and mean cell hemoglobin (MCH) between different types of thalassemia, so as to provide the reference basis for screening and classification, genetic diagnosis and counseling about thalassemia.Total 1474 samples from different areas of Fujian province were detected for α- and β-thalassemsia genotypes by gap single PCR (GS-PCR) combined with reverse dot blot hybridization (RDB). The detection of peripheral RBC, hemoglobin and primary screening of thalassemia in each set of sample were carried out before test.Among the detected 1474 samples, 704 (47.76%) were diagnosed as α-thalassemia, out of them 416 (28.22%) were diagnosed as α-thalassemia, 267(18.11%) as β-thalassemia, 21 (1.43%) as αβ-thalassemia. The α-thalassemia further was divide into 3 types: silent (5.09%), minor (22.18%) and HbH disease (0.95%), and their MCV, MCH and HbA2 levels were detected. The detection results showed obvious decrease trend with significant difference (P＜0.05).The gene mutation types of thalassemia display obvious heterogenity in Fujian area. The gene type in α-thalassemia mostly is --中国福建地区1474例地中海贫血基因检测结果分析.了解福建地区人群α、β地中海贫血基因的携带率及基因突变的类型，分析不同类型地中海贫血在血红蛋白A2（HbA2）、平均红细胞体积（MCV）和平均红细胞血红蛋白含量（MCH）中的差异性，为其筛查分类、基因诊断、遗传咨询提供参考，以提高人群的优生质量.送检福建各区、县样本，总计1 474例，采用单管多重聚合酶链反应（PCR）结合反向点杂交法（RDB）进行地中海贫血基因检测。各组标本送检前已完成外周血的血红蛋白指数、MCV和MCH测定，即进行了地中海贫血的初筛.在检测1 474例样本中，共检出704例地中海贫血（47.76%），其中α地中海贫血416例（28.22%），β地中海贫血267例（18.11%），α复合β地中海贫血21例（1.43%）。而α地中海贫血细分为3类，分别为静止型（5.09%），轻型（22.18%），中间型（0.95%），在对其HbA2、MCV和MCH的检测结果进行统计分析时发现呈明显的下降趋势，差异显著（P＜0.05）.福建地区α、β地中海贫血基因突变类型存在明显的遗传异质性，α地中海贫血以基因型 |
