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Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants

10 Feb 2025

Abstract excerpt

The clinical manifestations of hereditary spherocytosis (HS) are often heterogeneous, spanning from asymptomatic to severe symptoms that may pose life-threatening risks. Genotype-phenotype correlations remain controversial in clinical research. This retrospective study evaluated the correlation between genetic variants and clinical characteristics in a cohort of 64 Chinese pediatric patients with HS. The...

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PMID: 39995895
DOI: 10.3389/fped.2025.1523288

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