中国医药科学2025，Vol.15Issue(1)：149-152,4.DOI:10.20116/j.issn2095-0616.2025.01.36
1例β-珠蛋白基因双重突变杂合体的基因诊断及表型分析
A case of gene diagnosis and phenotypic analysis of a dual mutant heterozygotes of β-globin gene
摘要
Abstract
Objective To conduct molecular diagnosis and family analysis on a case of β-globin gene intron mutation,so as to investigate the effect of a rare mutation(IVS-Ⅱ-81 mutation combined with IVS-Ⅱ-153-157 deletion of β-thalassemia)on clinical phenotype.Methods The proband and their family members were analyzed by blood routine and hemoglobin(Hb)electrophoresis.The thalassemia genotyping was detected by PCR-reverse dot blot,and the rare mutation was identified by first generation sequencing(Sanger sequencing).Results By analyzing the test results of the proband and their family members,it was found that the hemoglobin of the proband and their mother in the family members were 93.00 and 111.00 g/L,respectively.The mean corpuscular volume was 72.10 and 66.40 fl.The mean corpuscular hemoglobin was 21.40 and 20.60 pg,respectively.The hemoglobin A2 was 5.18%and 1.80%,respectively.The mother of this family carried--SEA thalassemia genotype and rare β-thalassemia genotype IVS-Ⅱ-153-157,the father carried rare β-thalassemia genotype IVS-Ⅱ-81,the son inherited rare β-thalassemia genotypes IVS-Ⅱ-153-157 and IVS-Ⅱ-81,and the daughter inherited rare β-thalassemia genotype IVS-Ⅱ-81.Conclusion In this study,a rare β-globin gene IVS-Ⅱ-81 with IVS-Ⅱ-153-157 deletion is found.When the genotype is found to be inconsistent with the hematological phenotype,sequencing and confirming should be carried out to avoid missed diagnosis and misdiagnosis.关键词
地中海贫血/β-珠蛋白基因突变/基因诊断/表型分析Key words
Thalassemia/β-globin gene mutation/Gene diagnosis/Phenotypic analysis分类
医药卫生引用本文复制引用
李洁,杨运忠,陈明璐,冯子芳..1例β-珠蛋白基因双重突变杂合体的基因诊断及表型分析[J].中国医药科学,2025,15(1):149-152,4.基金项目
黔西南州科技计划项目(2023-3-10). （2023-3-10）
