β地中海贫血合并α珠蛋白基因三联体2例临床分析  

Clinical analysis of two cases withβ-thalassemia complicated withα-globin gene triplication

作　　者：任振敏 黄丽兰 刘四喜[2] 李长钢[2] 陈运生[1] REN Zhenmin;HUANG Lilan;LIU Sixi;LI Changgang;CHEN Yunsheng(Clinical Laboratory,Shenzhen Children’s Hospital,Shenzhen 518038,Guangdong,China;Department of Hematology and Oncology,Shenzhen Children’s Hospital,Shenzhen 518038,Guangdong,China)

机构地区：[1]深圳市儿童医院检验科,广东深圳518038 [2]深圳市儿童医院血液肿瘤科,广东深圳518038

出　　处：《临床儿科杂志》2021年第5期338-340,共3页Journal of Clinical Pediatrics

摘　　要：目的探讨β地中海贫血(地贫)合并α珠蛋白基因三联体致中间型地贫的诊断。方法回顾分析2例β杂合子患儿的临床资料,以及患儿外周血β珠蛋白基因测序及α珠蛋白基因三联体检测结果。结果例1,女,4岁,为β^(CD41-42)杂合子;例2,男,13岁,为β^(CD17)杂合子。2例患儿的临床表现均为中重度贫血、肝脾肿大,β珠蛋白基因测序未发现罕见变异点。例1的Gap-PCR特异性引物检测ααα^(anti4.2)片段阳性,例2荧光定量PCR相对定量检测ααα^(anti3.7)片段阳性。结论β杂合子且未见罕见变异,但临床表现为中重度贫血时,应考虑存在α珠蛋白基因三联体。Objective To investigate the clinical diagnosis of thalassemia intermediate caused byβ-thalassemia withα-globin gene triplication.Methods The clinical manifestations of twoβ-thalassemia heterozygotes were retrospectively analyzed,and the results ofβ-globin gene sequencing andα-globin gene triplication detection in peripheral blood were also analyzed.Results Case one is a 4 years old girl,and the routine thalassemia gene detection revealed that she was aβ^(CD41-42) heterozygote.Case two was a 13 years old boy,he was aβ^(CD17 )heterozygote detected by routine thalassemia gene sequencing.The clinical manifestations of both cases were moderate to severe anemia with hepatosplenomegaly.No rare mutation was found inβ-globin by sequencing.Triplicationααα^(anti 4.2) fragment was found in case one by Gap-PCR using specific primers.Theααα^(anti 3.7) fragment was positive in case two by qPCR relative quantification.Conclusion When the result of routine detection indicated beta heterozygote,but with moderate to severe anemia,if there is no rare mutation found by sequencing,the existence ofα-globin gene triplication should be considered.

关 键 词：当β地中海贫血 α珠蛋白基因三联体 中间型地中海贫血 ααα^(anti 3.7) ααα^(anti 4.2) 

分 类 号：R725.5[医药卫生—儿科]