海口地区地中海贫血基因分型及频率的研究

目的探讨海口地区地中海贫血的发病情况及基因突变的类型和频率。方法用红细胞脆性一管定量法对2191例受检者进行地中海贫血的筛查,对筛查阳性者进一步采用聚合酶链反应(PCR)和反向斑点杂交(RDB)技术进行地中海贫血基因分型的检测。结果在2191例受检者中,地中海贫血初筛阳性284例,占受检总人数的12.96%。284例初筛阳性的受检者中,检出地中海贫血阳性128例,地中海贫血检出率达45.07%。其中α地中海贫血85例(66.41%),β地中海贫血36例(28.13%),α复合β地中海贫血7例(5.47%)。结论海口地区地中海贫血发生率较高,做好婚前及产前地中海贫血筛查和产前基因诊断等工作,对避免重型地中海贫血患儿的出生,提高当地人口素质具有重要意义。

Analysis of the gene type and the prevalence of thalassemia in Hai kou area

Objective:To investigate the gene type and the incidence of thalassemia in Hai Kou area.Methods: 2191 patients were analyzed by using simple tube red cell osmotic fragility quantitative test(STROFQT),the positive cases were further tested by polymerase chain reaction(PCR) to confirm α-thalassemia gene type,By using PCR with reverse dotblot hybridization(RDB) to confirm their β-thalassemia mutations.Results: 284 positive cases(12.96%) were screened in 2191 patients,and 128 cases(45.07%) of thalassemia in 284 individuals were detected,including 85 cases(66.41%) of α-thalassemia,36 cases(28.13%) of β-thalassemia and 7 cases(5.47%) of α-thalassemia(α-thal) compound β-thal.Conclusions: It should be paid much attention to carry out genetic screening and prenatal diagnosis of thalassemia in Hai kou area.Prenatal diagnosis is the best effective measure to prevent severe thalassemia fetus to born.