Work

H Syndrome Associated With Pure Red Cell Aplasia, Rosai–Dorfman Disease, and Sensorineural Hearing Loss: Phenotypic Variability in Three Children With the Same SLC29A3 Mutation

Year: 2026

Type: article

Abstract: H syndrome is a rare autosomal recessive disorder caused by mutations in the SLC29A3 gene. We report three pediatric patients with a homozygous c.1309G>A (p.Gly437Arg) mutation presenting with distinct phenotypic variations. These cases expand the clinical spectrum and emphasize the importance of early genetic diagnosis and family counseling.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.73311

Authors: Mohammad Najajrah, Hadeel I. Bouzia, Nermin K. Darawi, Fatima S. Hajjaj, Nour H. Moosa, Noor M. Awad

Institution: Palestine Polytechnic University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,820