摘要
目的探讨河源地区地中海贫血的发病情况及基因分型。为开展地中海贫血的遗传咨询、产前诊断和预防计划提供参考。方法用一管定量法红细胞渗透脆性检测筛检受检人员,对筛查阳性或阴性临床疑似病例及部分贫血查因病例进行地贫基因检测。结果在7 872例受检者,筛查出阳性272例,发生率为3.5%;对筛查部分阳性和阴性临床疑似病例及部分贫血查因病例标本132例进行地中海贫血基因检测,其中α地中海贫血48例(36.4%),β地中海贫血45例(34.1%),α、β混合型地中海贫血6例(4.5%),非地中海贫血33例(25%)。基因诊断为地中海贫血患者中(99例)筛查为阴性者19例,漏诊率为19.1%结论河源地区人口中的α与β地中海贫血的基因突变类型和频率较高,婚前检查、孕检或产前诊断应以地中海贫血基因诊断为主,为遗传咨询提供了理论依据,减少本地区地中海贫血的发生率。
Objective The incidence of thalassemia in Heyuan and studying gene typing. To provide reference for genetic counseling, prenatal diagnosis of Mediterranean anemia and prevention program. Methods Using a quantitative method erythrocyte osmotic fragility test screening inspection personnel, to screen the positive or negative clinical suspected cases and anemia were thalassemia gene detection check. Results in 7 872 examined cases, screening out the positive in 272 cases, the positive rate was 3.5%; Screening for part of the positive and negative clinical suspected cases and anemia check cases specimens from 132 patients were thalassemia gene detection, including 48 cases of alpha thalassemia （36.4%）, 45 patients with beta thalassemia （34.1%）, 6 cases of alpha, beta thalassemia mixed type （4.5%）, 33 cases （25%） of non thalassemia. gene diagnosis for thalassemia patients （99 cases） screening was negative in 19 cases, the missed diagnosis rate was 19.1%. Conclusion Alpha and beta thalassemia population of Heyuan area in the type of gene mutation and higher frequency, premarital examination, pregnancy testing and prenatal diagnosis of thalassemia gene diagnosis should be based, provides the theoretical basis for genetic counseling, reduce the incidence of local thalassemia.
出处
《北京医学》
CAS
2014年第7期572-574,共3页
Beijing Medical Journal
