首页|HBA2:c.2T＞C和HBA2:c.2delT两例罕见突变引起血红蛋白H病家系分析

HBA2:c.2T＞C和HBA2:c.2delT两例罕见突变引起血红蛋白H病家系分析

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目的:分别对HBA2:c.2T＞C和HBA2:c.2delT两种罕见HBA2基因起始密码子突变复合东南亚型α-地贫的血红蛋白H病病例及其家系成员进行致病基因分析,了解HBA2:c.2T＞C和HBA2:c.2delT突变与临床表型的关系.方法:采集家系成员外周血进行血细胞分析及毛细管电泳血红蛋白分析,缺口 PCR(Gap-PCR)、反向点杂交法(RDB)检测α-地贫基因常见类型突变,Sanger测序法对HBA1和HBA2基因序列进行分析.结果:检测出两个先证者基因型分别为-SEA/αα 复合HBA2:c.2T＞C和--SEA/αα复合HBA2:c.2delT,家系成员中检出HBA2:c.2T＞C/WT和HBA2:c.2delT/WT,均表现为小细胞低色素性贫血.结论:HBA2:c.2T＞C和HBA2:c.2delT为杂合突变时机体可出现静止型α-地贫的表型,当其复合轻型α-地贫时可使机体出现血红蛋白H病的临床表现,本研究为遗传咨询提供依据.
Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T＞C and HBA2:c.2delT Mutations
Objective:To investigate two cases of rare pathogenic genes,initiation codon mutations in HBA2 gene,combined with Southeast Asian deletion and their family members to understand the relationship of HBA2:c.2T＞C and HBA2:c.2delT mutations with clinical phenotype.Methods:The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis.Gap-PCR and reverse dot blotting(RDB)were used to detect common types of mutations in α-thalassaemia gene.Sanger sequencing was used to analyze HBA1 and HBA2 gene sequence.Results:Two proband genotypes were identified as--SEA/αα with HBA2:c.2T＞C and--SEA/αα with HBA2:c.2delT.HBA2:c.2T＞C/WT and HBA2:c.2delT/WT was detected in family members.They all presented with microcytic hypochromic anemia.Conclusion:When HBA2:c.2T＞C and HBA2:c.2delT are heterozygous that can lead to static α-thalassemia phenotype,and when combined with mild α-thalassemia,they can lead to the clinical manifestations of hemoglobin H disease.This study provides a basis for genetic counseling.

α-globin geneHBA2:c.2T＞CHBA2:c.2delThemoglobin H disease

王秋华、陈杏园、唐宁、严提珍、黄钧、钟青燕、罗世强

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柳州市妇幼保健院医学遗传科,广西柳州 545001

广西壮族自治区人民医院,广西南宁 530000

广西壮族自治区生殖医院,广西南宁 530000

α-珠蛋白基因 HBA2:c.2T＞C HBA2:c.2delT 血红蛋白H病

国家自然科学基金柳州市科技重大专项广西卫生计生委科研项目柳州市科技创新能力和条件建设项目广西医学高层次骨干人才"139"计划培养目标专项柳州市科技计划

813600912018AF10501Z20170528Z-B202215782014G0204042018AF105012021YB0103A013G2020030282022SB024

2024

10.19746/j.cnki.issn1009-2137.2024.02.030

中国实验血液学杂志
中国病理生理学会

中国实验血液学杂志

CSTPCD北大核心
影响因子：0.988
ISSN：1009-2137
年,卷(期)：2024.32(2)
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