Hemochromatosis epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]

Overview

Prevalence of hemochromatosis is 6 times higher in white persons than in black persons.It is often described as a "Celtic mutation"--originating in a Celtic population in central Europe and spreading west and north by population movement.

Epidemiology and Demographics

Hemochromatosis is one of the most common inheritable genetic defects.[1]

Incidence:

  • In 2016, the incidence of C282Y is estimated to be 5400 cases per 100,000.
  • In 2016, the incidence of H63D is estimated to be 13500 cases per 100,000.

Prevalence:

  • In 2017, the prevalence of Hemochromatosis was estimated to be from 500 case in 100000 individuals.
  • The carrier state is estimated to be approximately 10000 in 100000.

Race:

  • Prevalence of hemochromatosis is 6 times higher in white persons than in black persons.
  • C282Y homozygotes account for 82-90% of clinical diagnoses of hereditary hemochromatosis among persons of northern European descent
  • Irish have highest prevalence of hemochromatosis.
  • In 2005, estimated prevalence of C282Y homozygotes was higher in non-Hispanic whites than in Native Americans.[2]
  • Non-Hispanic whites 44000 cases in 100000.
  • Native Americans 11000 cases in 100000.
  • Hispanics 270 cases in 100000
  • Blacks 140 cases in 100000
  • Pacific Islanders cases 120 in 100000
  • Asians less then 1 case in 100000

Countries:

  • It is often described as a "Celtic mutation"--originating in a Celtic population in central Europe and spreading west and north by population movement.
  • The European countries with the highest prevalence include Ireland, France, and Denmark.

References

  1. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ (1997). "Global prevalence of putative haemochromatosis mutations". J Med Genet. 34 (4): 275–8. PMC 1050911. PMID 9138148.
  2. Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD; et al. (2005). "Hemochromatosis and iron-overload screening in a racially diverse population". N Engl J Med. 352 (17): 1769–78. doi:10.1056/NEJMoa041534. PMID 15858186.

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