ArticleBritish journal of haematology2026
Iron overload in hereditary spherocytosis: Are genetic factors the cause?
Article in British journal of haematology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Ferroptosis in ischemia-reperfusion injury: molecular mechanisms and therapeutic strategies.American journal of cardiovascular disease · 2025Review
- Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights.Frontiers in genetics · 2024Article
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Authors and funding
7 authors.
Funding
Abstract
Non-transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next-generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association between IOL and the genes involved in HS nor the HFE:p.(Cys282Tyr) variant responsible for hereditary haemochromatosis. However, potential genetic factors contributing to IOL were identified in some patients, including variants in HJV (haemojuvelin), SLC40A1 (ferroportin), PKLR (pyruvate kinase), ABCG5 and ABCB8, highlighting the need for larger studies.
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