ArticleEuropean journal of medical research2009
Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis.
Article in European journal of medical research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Coinheritance of hereditary spherocytosis with haemochromatosis: next-generation sequencing reveals.BMJ case reports · 2024Article
- Rapid Identification of BiallelicMolecular syndromology · 2020Article
- New Concepts on Reversibility and Targeting of Liver Fibrosis; A Review Article.Middle East journal of digestive diseases · 2018Article
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Authors and funding
5 authors.
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Abstract
Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. The case indicates that patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.
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