重庆地区α地中海贫血基因型研究

Gene type study of alpha-thalassaemia in Chongqing

目的:研究重庆地区α地中海贫血各种基因型的分布情况、临床表现及实验室相关检查的特点,探讨基因诊断在α地中海贫血中的重要作用,对这一常染色体隐性遗传性疾病应如何做好婚检、产前诊断工作,以提高人类出生质量。方法:对来重庆医科大学附属儿童医院就诊的103名α地中海贫血患者行血清铁(SI)、总铁结合力(TIBC)、转铁蛋白饱和度(TS),血红蛋白电泳及多重单管聚合酶链反应(GSPCR)基因分析,结合其临床表现,采用回顾性及前瞻性方法进行分析。结果:(1)72例患者查SI、TIBC、TS,40例(55.56%)出现SI降低,TIBC升高,TS降低;(2)92例患者进行Hb电泳检查,29例出现快速带(31.52%);(3)103例α地中海贫血患者中,缺失型85例(82.52%),非缺失型18例(17.48%);⑷在85例缺失型中,α0地中海贫血较α+地中海贫血多。结论:(1)重庆地区α地中海贫血以缺失型为主;(2)α+地中海贫血稍多于α0地中海贫血;⑶基因诊断为确诊α地中海贫血的金标准;(4)为防止重型α地中海贫血患儿出生,提高人类生存质量,应做好婚检及产前诊断;⑸α地中海贫血可与营养性缺铁性贫血合并存在。

Objectives：To study the distribution status,clinical manifestations and laboratory test characteristics of alpha-thalassaemia gene type in the city of ChongQing to approach the importance of genetic diagnosis for alpha-thalassaemia,and the significance of thia diagnosis for antenatal screening and prenatal diagnosis to promote the survival quality of human being.Methods：This study was performed in the Children＇s Hospital of Chongqing Medical University.One hundred and three alpha -thalassaemia patients were involved in this study.They had taken the tests of serum iron（SI）,total iron binding capacity（TIBC）,transferrin saturation（TS）,hemoglobin（Hb）electrophoresis and genetic examination.Retrospective study and prospective study were performed with the results.Results：（1）A total of 72 patients underwent SI,TIBC and TS,and 55.56 %（40/72） patients had SI decreased,TIBC increased and TS decreased.（2） 92 serum samples from these patients had Hb electrophoresis,in which 31.52%（29/92） presented fast band.（3） In this study,there were 82.52%（85/103） deletional alpha-thalassaemia and 17.48%（18/103） non-deletional alpha-thalassaemia.（4） In 85 deletional alpha-thalassaemia,alpha0-thalassaemia was more than alpha＋-thalassaemia.Conclusion：（1） Deletion form is the main form of α thalassaemia in ChongQing.（2） alpha0-thalassaemia is less than alpha＋-thalassaemia.（3） Genetic diagnosis is the gold standard for this disease.（4） It should be emphasized that antenatal screening and prenatal diagnosis are important for better lives of human beings.（5） Alpha-thalassaemia can affiliate nutritional iron deficiency anemia（NIDA）.