Hereditary hemochromatosis

Authors

  • Stephen A. Geller Department of Pathology and Laboratory Medicine - David Geffen School of Medicine - University of California, Los Angeles/CA Department of Pathology and Laboratory Medicine - Weill Cornell Medical College, New York/NY
  • Fernando Peixoto Ferraz de Campos Internal Medicine Division - Hospital Universitário - University of São Paulo, São Paulo/SP

DOI:

https://doi.org/10.4322/acr.%25y.98450

Keywords:

Hemochromatosis, Iron Overload, Liver Diseases, Pancreatic Disease

Abstract

Hereditary hemochromatosis (HH) is the most commonly identified autosomal recessive genetic disorder in the white population, characterized by increased intestinal iron absorption and secondary abnormal accumulation in parenchymal organs, not infrequently accompanied by functional impairment. This entity is associated with mutations of the HFE gene (located on the short arm of chromosome 6 at location 6p22.2; closely linked to the HLA-A3 locus), which encodes the HFE protein, a membrane protein thought to regulate iron absorption by affecting the interaction between transferrin receptor and transferrin.

Downloads

Download data is not yet available.

Downloads

Published

2015-03-31

How to Cite

Geller, S. A., & Campos, F. P. F. de. (2015). Hereditary hemochromatosis. Autopsy and Case Reports, 5(1), 7-10. https://doi.org/10.4322/acr.%y.98450

Issue

Section

Image in focus