二例罕见α地中海贫血的遗传学分析  

Genetic Analysis of Two Cases of RareαThalassemia

作　　者：庄倩梅 刘春强 王耿 颜梅珍 江矞颖 ZHUANG Qian-mei;LIU Chun-qiang;WANG Geng;YAN Mei-zhen;JIANG Yu-ying(Prenatal Diagnosis Center,Quanzhou Women′s and Children′s Hospital,Quanzhou 362000,Fujian Province,China)

机构地区：[1]福建省泉州市妇幼保健院·儿童医院产前诊断中心,362000

出　　处：《国际生殖健康／计划生育杂志》2024年第4期302-304,共3页Journal of International Reproductive Health/Family Planning

基　　金：泉州市医疗卫生领域指导性科技计划项目(2022N037S)。

摘　　要：报道2例罕见α地中海贫血基因突变病例。2例患者的血常规结果均显示红细胞平均体积(mean corpuscular volume,MCV)和平均红细胞血红蛋白含量(mean corpuscular hemoglobin,MCH)下降,血红蛋白(hemoglobin,Hb)正常。Hb电泳结果显示病例1的HbA2正常、HbF升高,病例2的HbA2、HbF均正常。2例患者均未检测到常见的α和β地中海贫血基因突变。因其血液表型与基因型不符合,经分析疑似α地中海贫血基因携带者,故进一步采用跨越断裂点聚合酶链反应(Gap-PCR)法检测3种罕见缺失型α地中海贫血,包括--THAI、-α27.6、-α21.9,检测结果未见异常。采用Sanger测序法直接进行DNA序列测定,发现2例患者分别携带有罕见α珠蛋白基因突变,分别是CD26(GCG>GGG)杂合突变、CD104(TGC>TAC)杂合突变。这2例的基因突变丰富了中国人群α地中海贫血基因突变谱,对该病的筛查诊断和遗传咨询有一定的指导意义。Two cases of rareαthalassemia gene mutation were reported.The results of blood routine showed the decreased mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH),and the normal hemoglobin(Hb).Hemoglobin electrophoresis showed that the first patient had normal HbA2 and elevated HbF,and the second patient had normal HbA2 and HbF.Common mutations ofαandβthalassemia gene were not detected in both patients.Because the blood phenotype and genotype did not match,theαthalassemia carriers were suspected.Three rareαthalassemia types,including--THAI,-α27.6 and-α21.9,were further detected by Gap-PCR.However,the results did not show abnormality.Sanger sequencing method was then used to directly sequence the DNA of the study subjects.It was found that the two patients carried rare mutations ofαglobin gene,namely CD26(GCG>GGG)heterozygous mutation and CD104(TGC>TAC)heterozygous mutation,respectively.In this study,two rareαthalassemia gene mutations were reported,which enriched the gene mutation spectrum of the Chinese population,with a guiding significance for the screening diagnosis and genetic counseling of the disease.

关 键 词：Α地中海贫血 基因 突变 基因检测 病例报告 

分 类 号：R556.61[医药卫生—血液循环系统疾病]