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

European Journal of Medical Research

F Lammert²  T Sauerbruch³  CP Strassburg¹  C Erdmann³  A Höblinger³ 

[1] Department of Gastroenterology, Hepatology and Endocrinology, Hannover Medical School, Hannover, Germany;Department of Medicine II, Saarland University Hospital, Homburg, Germany;Department of Internal Medicine I, University Hospital Bonn, Bonn, Germany

关键词: liver cirrhosis;    iron overload;    hereditary spherocytosis;    hereditary hemochromatosis;   

Others  :  1093840
DOI  :  10.1186/2047-783X-14-4-182

 received in 2008-01-10, accepted in 2008-06-10,  发布年份 2009

【 摘 要 】

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.

【 授权许可】

   
2009 I. Holzapfel Publishers

【 图 表 】

Figure 1.

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