Introduction

The term haemochromatosis is usually used to describe a group of autosomal recessive disorders of iron metabolism. It is sometime called hereditary haemochromatosis and abbreviated to HHC.

The defects result in excessive iron absorption from the diet.
The excess iron acumulates in tissues, causing a wide variety of sign and symptoms as a result of problems with iron metabolism and secretion. These include:

  • Skin discolouration
  • Cirrhosis
  • Liver carcinoma
  • Diabetes (pancreatic involvement)
  • Joint involvement (arthiritis)
  • Pituitary – sexual dysfunction
  • Heart failure
The mainstay of treatment involves regular removal of blood from the patient. Initially after diagnosis, this typically involves removal of blood every week until ferritin falls below 100. Following this, the patient typically may have 3-4 pints removed each year.

Genetics

  • The most common form of the disease involves a mutation of the HFE gene on the short arm of chromosome six. This is carried by approximately 0.4% of the population
  • Varied penetrance: homozygosity of defective HFE gene does not necessarily cause haemochromatosis

Presentation

  • Presents late in disease process
  • Typically age 30-50
  • Usually begins with non-specific symptoms: lethargy, malaise, weakness, joint pains, erectile dysfunction
  • Later symptoms include: skin discolouration (darker), cirrhosis, hepatocellular carcinoma, diabetes, heart failure

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