导致β地中海贫血症的新型 8.2 kb 缺失的特征。

IF 2.5 3区 医学 Q2 MEDICAL LABORATORY TECHNOLOGY Clinical biochemistry Pub Date : 2024-10-05 DOI:10.1016/j.clinbiochem.2024.110832
Ge Wang , Haoyang Huang , Li Chen , Qizhi Xiao , Wei Zhang , Qianqian Zhang
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引用次数: 0

摘要

背景:地中海贫血是一种常见的单基因血液病,临床上分为α-地中海贫血和β-地中海贫血,其特点是构成成人血红蛋白的α-和β-球蛋白链不平衡。球蛋白基因的拷贝数变异(CNV)和单核苷酸变异是导致地中海贫血症的主要遗传缺陷:在一次产前检查中,一名孕妇被怀疑是地中海贫血症携带者,表现为小细胞低色素性贫血和血红蛋白成分异常。缺口聚合酶链反应(Gap-PCR)和反向点印迹(PCR-RDB)技术未检测到任何常见的地中海贫血突变。我们对该患者一家三代进行了血液学检查和进一步的遗传学分析。我们采用多重连接依赖性探针扩增(MLPA)技术来鉴定 CNVs,并使用靶向性下一代测序技术来筛选潜在的致病变异,这些变异随后通过桑格测序进行了验证。该患者及其父亲和儿子的血液学指标均表明他们是β地中海贫血症携带者。MLPA 结果显示,β-球蛋白簇存在一个大的缺失。进一步调查证实,在原告、她的父亲和儿子体内存在一个新的 8.2 kb 缺失(NC_000011.10:g.5224208_5232469del),特别是覆盖了整个 HBB 基因,而对其他球蛋白基因没有影响:结论:我们在一个中国家庭中发现了一个新的 8.2 kb 基因缺失,该基因缺失会导致 beta 型地中海贫血症,该家庭三代人都受到了影响。这种新型缺失可能会扩大地中海贫血症已知突变的范围,并为临床疑似病例提供参考。
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Characterization of a novel 8.2 kb deletion causing beta-thalassemia

Background

Thalassemia is a prevalent monogenic blood disorder, clinically classified into alpha- and beta-thalassemia, characterized by the imbalance of the alpha- and beta-globin chains that constitute adult hemoglobin. Copy number variations (CNVs) and single nucleotide variants in globin genes are the primary genetic defects causing thalassemia.

Case report

During a prenatal examination, a pregnant woman was suspected to be a carrier of thalassemia, exhibiting microcytic hypochromic anemia and abnormal hemoglobin constituents. Gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (PCR-RDB) techniques did not detect any common thalassemia mutations. We conducted hematological examination and further genetic analyses on the proband’s family with three generations. Multiplex ligation-dependent probe amplification (MLPA) was employed to identify CNVs, targeted next-generation sequencing was used to screen for potential pathogenic variants, which were subsequently validated by Sanger sequencing. The hematological parameters of the proband, her father and her son all indicated they were beta-thalassemia carriers. MLPA results revealed a large deletion in beta-globin cluster. Further investigation confirmed the presence of a novel 8.2 kb deletion (NC_000011.10:g.5224208_5232469del) in the proband, her father, and her son, specifically covering the entire HBB gene while not impacting other globin genes.

Conclusion

We found a novel 8.2 kb deletion leading to beta-thalassemia in a Chinese family in which three generations had been affected. This novel deletion may broaden the spectrum of known mutations in thalassemia and provide a reference for clinically suspected cases.
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来源期刊
Clinical biochemistry
Clinical biochemistry 医学-医学实验技术
CiteScore
5.10
自引率
0.00%
发文量
151
审稿时长
25 days
期刊介绍: Clinical Biochemistry publishes articles relating to clinical chemistry, molecular biology and genetics, therapeutic drug monitoring and toxicology, laboratory immunology and laboratory medicine in general, with the focus on analytical and clinical investigation of laboratory tests in humans used for diagnosis, prognosis, treatment and therapy, and monitoring of disease.
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