2. Academic Validation
  3. Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype

Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype

  • Mol Genet Genomics. 2024 May 24;299(1):57. doi: 10.1007/s00438-024-02150-5.
Guanxia Liang # 1,  Zezhang Lin # 1,  Yang Zhang # 2,  Qianqian Zhang 1,  Dina Zhu 1,  Xiongda Liang 1,  Hongting Xie 1,  Xiaofeng Wei 1,  Xuan Shang 3 4 5
Affiliations

Affiliations

  • 1 Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • 2 Department of Basic medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • 3 Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China. shangrabbit@163.com.
  • 4 Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, China. shangrabbit@163.com.
  • 5 Guangxi Key Laboratory of Precision Medicine for Genetic Diseases, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China. shangrabbit@163.com.
  • # Contributed equally.
PMID: 38787432 DOI: 10.1007/s00438-024-02150-5
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.

Keywords

SPTB; Complicated phenotype; Hereditary spherocytosis; Oligogenic inheritance.

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