Epidemiology

epidemiology

Hereditary haemochromatosis is a condition seen throughout the world (1).

• it is the most common single gene disorder in North European populations, especially Nordic or Celtic ancestry, in which it occurs with a prevalence of approximately 1 per 220-250 individuals (1,2)
  
  
• a systemic review has reported that 0.4% of people of northern European descent have the genetic mutation that increases the risk of developing haemochromatosis
  • however the clinical penetrance of the mutation is much lower than the genetic prevalence.

Around 80% of cases display homozygous C282Ymutation of the HFE gene on chromosome 6.

• homozygous C282Ymutation
  • affects nearly 1 in 250 white people
  • estimated prevalence among non white population is low – 0.00004- 0.1%
    
    
• in population screening studies, 25-50% of the homozygotes are found to be asymptomatic

Compound heterozygosity for C282Y/H63D is present in 4-7% of patients while homozyguous H63D is seen in around 1% (1)

Around 5% are non HFE mutations (1).

Reference:

• (1) Mohamed M, Phillips J. Hereditary haemochromatosis. BMJ. 2016;353:i3128.
• (2) Bacon BR et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011l;54(1):328-43