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

Pauline Lee, Lawrence Rice, John J. McCarthy, Ernest Beutler

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalBlood Cells, Molecules, and Diseases
Volume42
Issue number1
DOIs
StatePublished - Jan 2009

Keywords

  • ALAS2
  • Hemochromatosis
  • Hepatitis C
  • Iron overload
  • Iron responsive element
  • Liver transplant

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Hematology
  • Cell Biology

Fingerprint Dive into the research topics of 'Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report'. Together they form a unique fingerprint.

Cite this