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Research Paper | Synapse

July 24, 2024Orphanet Journal of Rare Diseases3 citationsOpen Access

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Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis

CWChongjun WuDonghua University YYYi-Xin YanSichuan Agricultural University TXTing XiongJiangxi Provincial Children's Hospital

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Resumen

This study aimed to investigate the clinical features, pathogenic gene variants, and potential genotype-phenotype correlations in Chinese patients with hereditary spherocytosis (HS).

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Cite This Study

Wu et al. (Wed,) studied this question.

synapsesocial.com/papers/68e5f2e3b6db643587587c60 https://doi.org/https://doi.org/10.1186/s13023-024-03290-y

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China2020 · 43 citations
2Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis1997 · 18 citations
3Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis1997 · 47 citations
4High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis1998 · 47 citations
5Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.1993 · 106 citations