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Epidemiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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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:

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