地中海贫血患者的基因型和血液学分析  

Analysis for the genotype and hematological characteristics of patients with thalassemia

作　　者：曾文冰 朱晓洁[1] 刘露[1] 刘瑞玉[1] ZENG Wenbing;ZHU Xiaojie;LIU Lu(Central Hospital of Huizhou City,Guangdong,Huizhou 516001,China)

机构地区：[1]广东省惠州市中心人民医院,516001

出　　处：《河北医药》2019年第2期182-185,共4页Hebei Medical Journal

基　　金：惠州市科技计划项目技术开发类(编号:170519161742973)

摘　　要：目的结合基因型以及血液学的分析,对筛查不同临床表型的地贫提供较为准确的依据。方法 154例符合研究要求的地中海贫血患者,按照其临床表型分为α地中海贫血(n=52)、β地中海贫血(n=48)和α地中海贫血复合β地中海贫血(n=54),对其基因型、血液学特点、血红蛋白电泳等进行检测分析,比较其不同表型之间的差异。结果α地中海贫血中--SEA/αα(23,44. 23%)基因型数量最多;β地中海贫血中CD41-42M/N (21,43. 75%)基因型数量最多;α地中海贫血复合β地中海贫血中--SEA/αα with CD41-42M/N(21,38. 89%)基因型数量最多。不同临床表型地中海贫血患者父母血液相关生化指标含量的比较中,三种临床表现型地中海贫血患者父亲和母亲HbA2、MCV、MCH、HbA2、HGB、RDW等指标比较差异有统计学意义(P <0. 05);不同临床表型地中海贫血患者血红蛋白电泳结果的比较,3组患者单独HbF正常或升高、HbA2降低数量比较差异有统计学意义(P <0. 05)。结论地中海贫血患者基因型和血液型的检测分析结合血红蛋白电泳能够较为准确的反应患者地中海贫血的临床表型,为临床筛查与防治地中海贫血工作提供了更为科学准确的依据,具有较大的临床的应用意义。Objective To provide more accurate bases for screening different clinical phenotypes of thalassemia by analysing the genotype combined with hematological characteristics of patients with thalassemia.Methods A total of 154 patients with mediterranean anemia who were treated in our hospital were enrolled in the study.According to the clinical phenotypes,these patients were divided into alpha thalassaemia group(n=52),beta thalassaemia group(n=48)and alpha combined with beta thalassaemia group(n=54).The genotype and hematological characteristics as well as hemoglobin electrophoresis were analyzed to compare the differences between different phenotypes.Results The SEA/alpha(23,44.23%)genotypes in alpha thalassemia group were the most,and the genotypes of cd41-42m/N(21,43.75%)in beta thalassaemia group were the most,moreover,the SEA/ααwith CD41-42M/N(21,38.89%)genotypes in alpha combined with beta thalassaemia group were the most.There were significant differences in HbA2,MCV,MCH,HbA2,HGB,RDW in the three kinds of clinical phenotypes thalassaemia between patient’s father and mother(P<0.05).Moreover the hemoglobin electrophoresis results showed that there was significant difference in normal HbF,elevated HbF or decreased HbA2 among the three groups(P<0.05).Conclusion The analysis of genotype and blood type in patients with thalassemia combined with hemoglobin electrophoresis can reflect more accurately the clinical phenotype of patients with thalassemia,which can provide more scientific and accurate bases for clinical screening and prevention of mediterranean anemia.

关 键 词：地中海贫血 血液学 基因型 临床表型 

分 类 号：R556[医药卫生—血液循环系统疾病]