Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report
- Cunxin Xu
- Ya Wu
- Dujuan Wang
- Xuemin Zhang
- Ningling Wang
Affiliations: Department of Neonatology, The Fourth Affiliated Hospital of Anhui Medical University, Heifei, Anhui 230012, P.R. China, Department of Pediatrics, The Second Affiliated Hospital of Anhui Medical University, Heifei, Anhui 230601, P.R. China
- Published online on: July 28, 2022 https://doi.org/10.3892/etm.2022.11537
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Hereditary spherocytosis (HS) is an erythrocyte membrane disease with a non‑specific phenotype, particularly occurring in neonatal patients, and its diagnosis is challenging. The present study reports on a patient with neonatal HS and reviewed the genetic characteristics of reported neonatal HS cases in China. The patient was admitted only a few hours after birth with jaundice. Auxiliary examination indicated anemia and hyperbilirubinemia. Spherical erythrocytes were occasionally observed in peripheral blood smears. Genetic testing suggested that the patient harbored a novel frameshift mutation (p.Asp495fsTer78) in spectrum, β, erythrocytic (SPTB), which was carried by the father. Review of 160 cases of HS in China revealed 24 to be neonatal cases. In these neonatal cases, the frequency of ankyrin 1 (ANK1) mutations and loss‑of‑function mutations of pathogenic genes (including ANK1 and SPTB) was higher than that in the non‑neonatal group. In conclusion, the present study further expanded the mutation spectrum of SPTB and reaffirms the diagnostic value of gene detection in neonatal HS.