Evidence map›Paper›PMID 38787432›Full record

ArticleMolecular genetics and genomics : MGG2024

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

Guanxia Liang, Zezhang Lin, Yang Zhang, Qianqian Zhang, Dina Zhu, Xiongda Liang, Hongting Xie, Xiaofeng Wei, Xuan Shang

Abstract readCase Reports
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In one paragraph

Article in Molecular genetics and genomics : MGG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Two Variants of theBiomedicines · 2025
    Article
  2. Article
4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

9 authors.

Guanxia Liang *Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Zezhang Lin *Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Yang Zhang *Department of Basic medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Qianqian ZhangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Dina ZhuDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Xiongda LiangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Hongting XieDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Xiaofeng WeiDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Xuan ShangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China. shangrabbit@163.com.ORCID http://orcid.org/0000-0003-1358-0879

Funding

Basic and Applied Basic Research Foundation of Guangdong Province 2024A1515012748National Natural Science Foundation of China 82370122open foundation from Guangxi Key Laboratory of Precision Medicine for Genetic Diseases of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region GXWCH-ZDKF-2023-11Southern Medical University Innovation Training Program for Undergraduate Students S202012121059
6 · The paper itself

Abstract

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.

Indexed as

Kruppel-Like Transcription FactorsPhenotypeSpherocytosis, HereditaryCodon, NonsenseExome SequencingGlucuronosyltransferaseHeterozygoteHumansSpectrinUGT1A1 EnzymeCodon, Nonsenseerythroid Kruppel-like factorGlucuronosyltransferaseKruppel-Like Transcription FactorsSpectrinSPTB protein, humanUGT1A1 EnzymeComplicated phenotypeHereditary spherocytosisOligogenic inheritanceSPTB

Identifiers

PMID38787432

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.