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目的统计河源地区地中海贫血(简称地贫)的发病率及其类型分布情况,增强本地区人群进行地中海贫血筛查意识,提高该地区人口素质。方法对来我院行产前检查或婚前检查的育龄人群共6470例常规做地中海贫血筛查,检测项目主要是血液常规检测、红细胞渗透脆性试验和全自动琼脂糖血红蛋白电泳试验,综合三者的结果判定被筛查者是否患有地贫及其地贫类型,对其中976例地贫表型阳性者进行基因诊断试验,并对结果进行回顾性分析。结果在6470例育龄人群地中海贫血筛查中共检出各种地中海贫血携带者1545例,检出率为23.88%(1545/6470),其中!–轻型地贫1104例、HbH病27例、“-轻型地贫414例、异常血红蛋白病27例,基因诊断结果分析显示:!-地贫筛查的诊断符合率较低只有73.23%,而”-地贫筛查的诊断符合率较高达95.83%。结论河源地区地中海贫血发病率高,且!-地贫明显高于"-地贫,河源地区应加大地中海贫血筛查力度,通过合理婚配、遗传咨询及产前诊断等一系列配套措施避免重型地贫患儿的出生,对优生优育具有重要意义。
Objective To analyze the prevalence and type distribution of thalassemia in Heyuan area, and to enhance the awareness of thalassemia screening among local population and to improve the quality of population in this area. Methods A total of 6470 routine tests of thalassemia were carried out on 6470 childbearing-age children who came to our hospital for prenatal or prenuptial examination. The test items were routine blood tests, erythrocyte infiltration fragility tests and agarose hemoglobin electrophoresis tests. Results The subjects were screened for thalassemia and thalassemia, and 976 cases of thalassemia phenotype were genotyped, and the results were retrospectively analyzed. Results A total of 1545 cases of carriers of thalassemia were detected in 6470 cases of thalassemia of childbearing age. The detection rate was 23.88% (1545/6470), of which 1104 cases were mild thalassemia, 27 cases were HbH, 414 cases of mild thalassemia and 27 cases of abnormal hemoglobin disease. The analysis of gene diagnosis showed that the diagnostic coincidence rate of thalassemia-screening was only 73.23%, while the diagnostic accuracy rate of thalassemia screening was as high as 95.83 %. Conclusion The prevalence of thalassemia in Heyuan area is high, and thalassemia major is higher than thalassemia thalassemia. The screening of thalassemia should be strengthened in Heyuan area, and a series of matching measures such as reasonable marriage, genetic counseling and prenatal diagnosis should be avoided The birth of children with thalassemia major is of great significance for prenatal and postnatal care.