潮州地区人群血红蛋白病基因型分布调查

目的了解潮州地区人群血红蛋白病的分布状况和基因型。方法采用血细胞平均体积（MCV）、红细胞脆性及血红蛋白电泳3种方法联合检测，对本地区人群（2936例）进行血红蛋白病的筛查。筛查阳性样本采用跨越断裂点多聚酶链反应（gap-PCR）和反向斑点杂点（reverse dot blot）技术进行地贫基因确诊，以PCR-DNA测序法进行异常血红蛋白（除HbE）突变的鉴定。结果潮州地区人群的筛查阳性率为9．43％（277／2936）。其中164例接受地贫基因诊断，诊断率为59．21％（164／277）。在115例确诊为地中海贫血的样本中，α-地贫占78．26％（90／115），以东南亚缺失型（--SEA）为主；β-地贫占21．74％（25／115），其中654M位点突变发病率最高，其次是41-42M；异常血红蛋白携带者6例，为HbQ．Thailand、Hb K-NewYork、Hb J-Bangkok、Hb G-Chinese各1例，HbE2例。结论潮州地区人群地中海贫血发病率较高，以α-地中海贫血居多。本研究结果对于开展遗传咨询、产前诊断具有重要的参考价值。

Clinical and molecular characters of hemoglobinopathy in Chaozhou population

Objective To investigate the genotype distribution of hemoglobinopathy（thalassemia and abnormal hemoglobin） in Chaozhou population. Methods A total of 2396 samples were screened for hemoglobinopathy by combined MCV, erythrocyte fragility tests and hemoglobin electrophoresis. Thalassemia genotypes were identified by Gap-PCR and Reverse Dot Blot. The mutants of globin gene were detected by PCR- DNA sequencing. Rusults The positive screening rate was 9.43%（277/2936） in Chaozhou population. 164 cases of these 277 people received thalassemia genotype diagnosis and diagnostic rate was 59.21%（164/277）. 115 people were positive for thalassemia molecular diagnosis. The rate of α-thalassemia was 78.26%（90/115） and the major part of them was --SEA. The rate of β -thalassemia was 21.74%（25/115） and the major genotype of β -thalassemia was 654M, followed by 41-42M. 6 cases of abnormal hemoglobin were found, which included a case of Hb Q-Thailand, a case of Hb K-NewYork, a case of Hb J-Bangkok, a case of Hb G-Chinese and two cases of HbE. Conclusion There was a high prevalence of hemoglobinopathy with the majority of α -thalassemia in Chaozhou population. There was reference value of our investigation for genetic counseling and prenatal diagnosis.