精确诊断出一名具有复杂血液表型的遗传性球形红细胞增多症患者。

IF 2.3 3区 生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY
Guanxia Liang, Zezhang Lin, Yang Zhang, Qianqian Zhang, Dina Zhu, Xiongda Liang, Hongting Xie, Xiaofeng Wei, Xuan Shang
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引用次数: 0

摘要

遗传性球形红细胞增多症(HS)是遗传性溶血性贫血最常见的病因之一。目前,遗传性球形红细胞增多症的诊断指南主要基于体格检查和实验室检查。然而,有些患者的临床表现比较复杂,常规诊断方案无法解释。在此,我们报告了一例罕见的轻度贫血、间接胆红素水平极高和胎儿血红蛋白高表达的 HS 病例。通过全外显子组测序分析,该患者被确定为新发 SPTB 无义突变(c.605G > A; p.W202*)的杂合子携带者和已知 UGT1A1 和 KLF1 突变的复合杂合子携带者。这种基于患者基因组数据解读的遗传分析不仅通过对复杂表型的出色解释实现了精确诊断,而且还为后续治疗、监测和预防的适当方法提供了有价值的建议。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.

Hereditary spherocytosis (HS) is one of the most common causes of hereditary hemolytic anemia. The current diagnostic guidelines for HS are mainly based on a combination of physical examination and laboratory investigation. However, some patients present with complicated clinical manifestations that cannot be explained by routine diagnostic protocols. Here, we report a rare HS case of mild anemia with extremely high indirect bilirubin levels and high expression of fetal hemoglobin. Using whole exome sequencing analysis, this patient was identified as a heterozygous carrier of a de novo SPTB nonsense mutation (c.605G > A; p.W202*) and a compound heterozygous carrier of known UGT1A1 and KLF1 mutations. This genetic analysis based on the interpretation of the patient's genomic data not only achieved precise diagnosis by an excellent explanation of the complicated phenotype but also provided valuable suggestions for subsequent appropriate approaches for treatment, surveillance and prophylaxis.

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来源期刊
Molecular Genetics and Genomics
Molecular Genetics and Genomics 生物-生化与分子生物学
CiteScore
5.10
自引率
3.20%
发文量
134
审稿时长
1 months
期刊介绍: Molecular Genetics and Genomics (MGG) publishes peer-reviewed articles covering all areas of genetics and genomics. Any approach to the study of genes and genomes is considered, be it experimental, theoretical or synthetic. MGG publishes research on all organisms that is of broad interest to those working in the fields of genetics, genomics, biology, medicine and biotechnology. The journal investigates a broad range of topics, including these from recent issues: mechanisms for extending longevity in a variety of organisms; screening of yeast metal homeostasis genes involved in mitochondrial functions; molecular mapping of cultivar-specific avirulence genes in the rice blast fungus and more.
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