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Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Liang, Guanxia; Lin, Zezhang; Zhang, Yang; Zhang, Qianqian; Zhu, Dina; Liang, Xiongda; Xie, Hongting; Wei, Xiaofeng; Shang, Xuan.
Afiliación
  • Liang G; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Lin Z; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Zhang Y; Department of Basic medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Zhang Q; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Zhu D; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Liang X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Xie H; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Wei X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
  • Shang X; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China. shangrabbit@163.com.
Mol Genet Genomics ; 299(1): 57, 2024 May 24.
Article en En | MEDLINE | ID: mdl-38787432
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Esferocitosis Hereditaria / Factores de Transcripción de Tipo Kruppel Límite: Humans Idioma: En Revista: Mol Genet Genomics Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Esferocitosis Hereditaria / Factores de Transcripción de Tipo Kruppel Límite: Humans Idioma: En Revista: Mol Genet Genomics Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: Alemania