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

Eur J Med Res. 2009 Apr 16;14(4):182-4. doi: 10.1186/2047-783x-14-4-182.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Hemochromatosis / genetics*
  • Hemochromatosis / pathology
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Homozygote
  • Humans
  • Iron Overload / genetics
  • Iron Overload / pathology
  • Iron Overload / physiopathology
  • Liver Cirrhosis / pathology
  • Liver Cirrhosis / physiopathology
  • Liver Cirrhosis / therapy*
  • Membrane Proteins / genetics
  • Mutation
  • Phlebotomy / methods
  • Recovery of Function
  • Spherocytosis, Hereditary / genetics*
  • Spherocytosis, Hereditary / pathology
  • Spherocytosis, Hereditary / physiopathology
  • Treatment Outcome

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins