纯合和复合杂合点突变型α地中海贫血的血液学特征分析  

Hematological characteristics of homozygous and compound heterozygouspoint mutations ofα-thalassaemia

作　　者：袁腾龙 王继成[1] 秦丹卿[1] 梁杰 姚翠泽 杜丽[1] 郭浩[1] Yuan Tenglong;Wang Jicheng;Qin Danqing;Liang Jie;Yao Cuize;Du Li;Guo Hao(Medical Genetic Centre,Guangdong Women and Children Hospital,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511440

出　　处：《中国产前诊断杂志（电子版）》2020年第4期79-81,共3页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的评价纯合和复合杂合点突变型(地中海贫血的血液学特征,为临床产前咨询提供依据。方法对明确诊断的11例纯合和复合杂合点突变型α地中海贫血进行回顾性血液学指标分析。结果11例纯合型和复合杂合点突变型α地中海贫血病例中共检出纯合点突变型α地中海贫血5例,血红蛋白96~137g/L。复合杂合点突变型α地中海贫血5例,血红蛋白93~139g/L。纯合点突变型α地中海贫血同时合并β地中海贫血1例,血红蛋白106g/L。结论纯合型和复合杂合点突变型α地中海贫血血液学参数及血红蛋白电泳结果存在一定的相关性,同时也存在一定的差异。纯合和复合杂合点突变型α地中海贫血结果分析应该结合血液学参数及血红蛋白电泳结果进行分析。Objective To evaluate the hematological characteristics analysis of homozygous and compound heterozygous point mutation(-thalassemia,and to provide theoretical basis for clinical prenatal consultation.Methods A retrospective analysis of hematological indicators was performed on 11 cases of homozygous and compound heterozygous point mutationα-thalassemia with a clear diagnosis.Results A total of 5 cases of homozygous point mutationα-thalassemia were detected in 12 cases of homozygous and compound heterozygous point mutationα-thalassemia,with hemoglobin level ranging 96~137g/L.5 cases of compound heterozygous point mutationα-thalassemia were detected with hemoglobin level ranging 93~139g/L.1 case of homozygous point mutantα-thalassemia combined withα-thalassemia were detected with hemoglobin level 106g/L.Conclusion There were certain correlations between hematological parameters and hemoglobin electrophoresis results in homozygous and compound heterozygous point mutantα-thalassemia,while there were also certain differences.The analysis of homozygous and compound heterozygous point mutationα-thalassemia should be combined with hematological parameters and hemoglobin electrophoresis results.

关 键 词：纯合点突变型α地中海贫血 杂合点突变型α地贫 血液学指标 产前诊断 

分 类 号：R714.56[医药卫生—妇产科学]