1例罕见α地中海贫血合并β地中海贫血病例分析  

A rare case of α-Eastern Mediterranean complicated with β-Eastern Mediterranean anemia1

作　　者：刘意 谢东德 LIU Yi;XIE Dongde(Department of Clinical Laboratory,The Second People's Hospital of Foshan,Foshan 528000,China)

机构地区：[1]佛山市第二人民医院检验科,广东佛山528000

出　　处：《佛山科学技术学院学报(自然科学版)》2025年第2期26-29,共4页Journal of Foshan University(Natural Science Edition)

摘　　要：目的通过分析1例罕见α地中海贫血合并β地中海贫血病例,探究罕见型地中海贫血基因型与表型不符的原因,提高罕见地中海贫血诊断水平。方法结合受检者血液学表型、血红蛋白电泳分析结果,采用PCR+导流杂交法检测受检者ɑ和β-地中海贫血常见基因型,通过DNA测序技术对受检者标本进行罕见α和β蛋白基因三代测序。结果受检者血液学表型为HGB:106 g/L、MCV:68.8 fl、MCH:22.2 pg。毛细血管电泳结果显示:HbA2:6.18%、HbF:5.31%。测序结果为--^(SEA)ɑ^(0)缺失合并taiwan residentsβ^(0)型杂合缺失的αβ复合地中海贫血。结论该病例为α珠蛋白基因NG_000006.1:g.26264_45564发生缺失合并β基因外显子1和外显子2杂合缺失,由于该病例同时存在α基因和β基因的缺失,减轻了β/α链比例的失衡,从而使得表现型为轻型或中间型地中海贫血。Objective To analyze a case of rare α Eastern Mediterranean anemia complicated with β Eastern Mediterranean anemia,to explore the reasons for the inconsistency between the genotype and phenotype of rare Eastern Mediterranean anemia,and to improve the diagnosis of rare Eastern Mediterranean anemia.Methods Combined with the results of hematological phenotype and hemoglobin electrophoresis analysis,the common genotypes of ɑ and β-Eastern Mediterranean anemia of the subjects were detected by PCR+diversion hybridization method,and the rare ɑ and β protein genes were sequenced by DNA sequencing technology.Results The hematological phenotypes of the subjects were HGB:106 g/L,MCV:68.8fl,and MCH:22.2 pg.The results of capillary electrophoresis showed that HbA2 was 6.18% and HbF was 5.31%.The sequencing results showed αβ compound Eastern Mediterranean with--^(SEA)ɑ^(0) deletion combined with taiwan residentsβ^(0) heterozygous deletion.Conclusion In this case,the α globin gene NG_000006:g.26264_45564 was deleted and heterozygous deletion of β gene exon 1 and exon 2,due to the deletion of bothαgene and β gene in this case,the imbalance of the β/α chain ratio was alleviated,and the phenotype was mild or intermediate Eastern Mediterranean anemia.

关 键 词：αβ复合地中海贫血 taiwan residentsβ^(0)基因缺失 --^(SEA)ɑ^(0)缺失 

分 类 号：R556.61[医药卫生—血液循环系统疾病]