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01-12-2009 | Review

Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis

Authors: A Höblinger, C Erdmann, CP Strassburg, T Sauerbruch, F Lammert

Published in: European Journal of Medical Research | Issue 4/2009

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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Title: Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis
Authors: A Höblinger
C Erdmann
CP Strassburg
T Sauerbruch
F Lammert
Publication date: 01-12-2009
Publisher: BioMed Central
Published in: European Journal of Medical Research / Issue 4/2009
Electronic ISSN: 2047-783X
DOI: https://doi.org/10.1186/2047-783X-14-4-182

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Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis

Abstract

Keynote webinar | Spotlight on medication adherence

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