Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report Academic Article uri icon


MeSH Major

  • 5-Aminolevulinate Synthetase
  • Hepatitis C, Chronic
  • Iron Overload


  • A 55 year old man with a history of chronic hepatitis C infection was found to have severe hemochromatosis: hepatic cirrhosis, cardiomyopathy, arrhythmia, hypogonadism, diabetes and bronzed skin color. After 50 phlebotomies, he underwent a combined heart and liver transplant. Genetic analyses identified a novel mutation in the iron responsive element of the ALAS2 gene. No mutations were found in other genes associated with adult or juvenile hemochromatosis including HFE, transferrin receptor-2 (TFR2), ferroportin (SLC40A1), hepcidin (HAMP) and hemojuvelin (HJV). We suggest that the ALAS2 mutation together with chronic hepatitis C infection may have caused the severe iron overload phenotype.

publication date

  • January 2009



  • Academic Article



  • eng

PubMed Central ID

  • PMC2696479

Digital Object Identifier (DOI)

  • 10.1016/j.bcmd.2008.08.001

PubMed ID

  • 18823803

Additional Document Info

start page

  • 1

end page

  • 4


  • 42


  • 1