中国江苏地区人群血红蛋白病基因型分析

Genotype Analysis of Hemoglobinopathy in Chinese Jiangsu Population

目的:了解中国江苏地区人群血红蛋白病的分布情况和基因型。方法:对4 115人进行血红蛋白病筛查,采用血细胞平均体积(MCV),红细胞渗透脆性试验及高效液相色谱技术(HPLC)三种方法联合进行。筛查阳性标本采用跨越断裂点多聚酶链反应(gap-PCR)和PCR结合反向点杂交技术(RDB)技术进行地中海贫血基因确诊,以PCR-DNA测序法及PCR-电泳法作为RDB技术的补充及异常血红蛋白(除Hb E)突变的鉴定。结果:中国江苏地区人群血红蛋白病筛查阳性率6.10%(251/4 115)。其中对232例进行地中海贫血基因诊断,确诊195例,分别为α-地中海贫血占31.28%(61/232),β-地中海贫血66.15%(129/232),α地中海贫血复合β-地贫1.54%(3/232),SEA-HPFH 0.43%(1/232),SEA-HPFH复合β-地中海贫血0.43%(1/232);α-地中海贫血以东南亚缺失型(--SEA)为主,β-地中海贫血以IVS-Ⅱ-654位点突变率最高;另确诊异常血红蛋白携带者11例,为Hb E3例,Hb Kenitra、Hb Seattle、Hb Saitama、Hb Bushw ick、Hb Koln以及Hb M-M ilw aukee-2各1例。结论:中国江苏地区人群中血红蛋白病以地中海贫血为主,HPLC对筛查血红蛋白病发挥重要作用。本研究对开展遗传咨询,产前诊断具有重要意义。

Objective:To investigate the genotype distribution of hemoglobinopathy in Chinese Jiangsu population.Method:A total of 4115 samples were screened for hemaglobinopathy by using MCV combined with erythrocyte fragility tests and HPLC.Thalassemia genotypes were identified by Gap-PCR and Recerse Dot blot.PCR-DNA sequencing and PCR-elecrophoresis were used as supplement of PCR-RBD and for identifying the mutants of globin gene of abnormal hemoglobin.Results:The positive screening rate was 6.10%(251/4115) in Chinese Jiangsu population,232 cases received thalassemia genotype diagnosis and from them 195 people were positive.In all positive ones,a-thalassemia,β-thalassemia,α-thalassemia combined with,β-thalassemia,SEA-HPFH and SEA-HPFH combined with β-thalassemia were found respectively to be 31.28%(61/232),66.15%(129/232),1.54%(3/232) p.43%(1 /232) and 0.43%(1 /232)of patients.The majority genotype of α-thalassemia was-_SEA and IVS-Ⅱ-654 was the main genotype of β-thalassemia,11 cases of abnormal hemoglobin were found,including 3 cases of Hb E,1 Hb Kenitra,1 Hb Seattle,1Hb Saitama,1 Hb Bushwick,1 Hb Koln and 1 Hb M-Milwaukee-2.Conclusion:The main hemoglobinpathy is thalassemia in Chinese Jiangsu province and the HPLC play an important role in screening hemoglobinpathy.There is reference value of this study for genetic counseling and prenatal diagnosis.