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 ofβ-globin gene

作　　者：李洁 杨运忠 陈明璐 冯子芳 LI Jie;YANG Yunzhong;CHEN Minglu;FENG Zifang(Department of Medical Laboratory,Xingyi People’s Hospital in Guizhou Province,Guizhou,Xingyi 562400,China)

机构地区：[1]贵州省兴义市人民医院医学检验科,贵州兴义562400

出　　处：《中国医药科学》2025年第1期149-152,共4页China Medicine And Pharmacy

基　　金：黔西南州科技计划项目(2023-3-10)。

摘　　要：目的对1例β-珠蛋白基因内含子突变的病例进行分子诊断及其家系分析,探索罕见突变[IVS-Ⅱ-81突变复合IVS-Ⅱ-153-157缺失的β-地中海贫血(地贫)]对临床表型的影响。方法对先证者及其家系成员进行血常规和血红蛋白(Hb)电泳分析。使用PCR-反向点杂交法检测地贫基因分型,一代测序(Sanger测序法)鉴别基因罕见突变。结果先证者、先证者母亲Hb分别为93.00、111.00 g/L,平均红细胞体积分别为72.10、66.40 fl,平均红细胞血红蛋白量分别为21.40、20.60 pg,血红蛋白A2分别为5.18%、1.80%。该家系母亲携带--SEA地贫基因型和罕见β-地贫基因型IVS-Ⅱ-153-157,父亲携带罕见β-地贫基因型IVS-Ⅱ-81,儿子遗传罕见β-地贫基因型IVS-Ⅱ-153-157和IVS-Ⅱ-81,女儿遗传罕见β-地贫基因型IVS-Ⅱ-81。结论本研究发现一种罕见β-珠蛋白基因IVS-Ⅱ-81突变复合IVS-Ⅱ-153-157缺失,当发现基因型与血液学表型不符合时,应进行测序确认,避免漏诊和误诊。Objective To conduct molecular diagnosis and family analysis on a case ofβ-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 ofβ-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 rareβ-thalassemia genotype IVS-Ⅱ-153-157,the father carried rareβ-thalassemia genotype IVS-Ⅱ-81,the son inherited rareβ-thalassemia genotypes IVS-Ⅱ-153-157 and IVS-Ⅱ-81,and the daughter inherited rareβ-thalassemia genotype IVS-Ⅱ-81.Conclusion In this study,a rareβ-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 

分 类 号：R556.61[医药卫生—血液循环系统疾病]