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目的探讨江门地区地中海贫血的发病情况及基因分型。方法采用红细胞脆性-管定量法对江门地区1875例受检者进行地中海贫血的筛查,对于筛查结果呈阳性者进一步进行聚合酶链反应(PCR)以及反向斑点杂交(RDB)技术检测,进行地中海贫血基因分型的检测。结果 1875例受检验者中,共筛查出阳性病例243例,占总受检人数的12.96%。243例初筛阳性的受检者,经基因筛查共检测出地中海贫血患者109例,占初筛查阳性者的44.86%。经PCR以及RDB检测,109例地中海贫血患者中,α地中海贫血72例(66.06%),β地中海贫血31例(28.44%),α复合β中海贫血6例(5.50%)。结论目前江门地区地中海贫血的发病率较高,因此做好婚前、产前地中海贫血的筛查以及产前基因诊断等工作,对降低重型地中海贫血患儿的出生,提升当地人口素质均具有十分重要的临床意义。
Objective To investigate the incidence and genotyping of thalassemia in Jiangmen area. Methods A total of 1875 subjects in Jiangmen area were screened for thalassemia using the method of erythrocyte fragility-tube quantification. Polymerase chain reaction (PCR) and reverse dot blot hybridization (RDB) Thalassemia genotyping tests were performed. Results Among the 1875 subjects, 243 positive cases were detected, accounting for 12.96% of the total number of subjects. A total of 243 cases of primary screening positive subjects were detected by genetic screening in 109 cases of thalassemia patients, accounting for 44.86% of the positive screening. Among 109 cases of thalassemia, 72 cases (66.06%) of α-thalassemia, 31 cases of β-thalassemia (28.44%) and 6 cases of α-thalassemia β (5.50%) were detected by PCR and RDB. Conclusions At present, there is a high incidence of thalassemia in Jiangmen area. Therefore, screening prenatal and prenatal thalassemia and prenatal genetic diagnosis are very important to reduce the birth of children with thalassemia major and improve the quality of local population The clinical significance.