遗传性球形红细胞增多症的临床表型与基因型之间的相关性。

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2024-01-01 DOI:10.1089/gtmb.2023.0307
Hao Shen, Zhigang Gao, Qing Ye
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引用次数: 0

摘要

目的:遗传性球形红细胞增多症(HS)是一种常见的遗传性溶血性疾病。本研究旨在探讨 HS 表型与突变基因型之间的相关性,以提高临床对 HS 的认识。方法:本研究报道了1例ANK1基因自发突变的HS患者,回顾了既往关于HS基因型与表型相关性的研究,统计分析了HS基因突变的主要类型,并总结了患者的临床资料。研究结果该患者临床表现为贫血、脾肿大、外周血涂片球形红细胞增多、胆红素增高,经基因检测证实为ANK1基因突变的HS。此外,本研究还纳入了之前 14 项关于基因型与表型相关性的研究,收集了相关数据,并确定 ANK1 和 SPTB 基因是 HS 患者最常见的基因突变类型。ANK1 基因突变的 HS 会导致血红蛋白水平降低。结论研究结果表明,ANK1 和 SPTB 是 HS 患者中最常见的基因突变类型。与 SPTB 基因型 HS 患者相比,ANK1 基因突变型 HS 患者的血管外溶血更为严重,需要在幼儿期进行脾脏切除术的比例更高。
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The Correlation Between Clinical Phenotype and Genotype of Hereditary Spherocytosis.

Objective: Hereditary spherocytosis (HS) is a common hereditary hemolytic disease. This study aimed to explore the correlation between the phenotype and mutant genotype of HS to improve the clinical understanding of HS. Methods: This study reported a case of spontaneous mutation of the ANK1 gene in HS, reviewed previous studies on the genotype-phenotype correlation of HS, statistically analyzed the main types of gene mutations in HS, and summarized the clinical data of patients. Results: This patient had clinical manifestations of anemia, splenomegaly, peripheral blood smear with increased spherocytosis, and bilirubin, confirmed as ANK1 gene mutant HS by gene detection. In addition, this study included 14 previous studies on genotype-phenotype correlation, collected data, and determined that the ANK1 and SPTB genes were the most common types of gene mutations in HS patients. The mutant HS of the ANK1 gene would lead to lower hemoglobin levels. Conclusion: The results of this study showed that ANK1 and SPTB were the most common types of gene mutations in HS patients. Compared with patients with the SPTB genotype HS, patients with ANK1 mutant HS had more severe extravascular hemolysis, and a higher proportion needed splenectomy in early childhood.

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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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