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==Epidemiology and Demographics==
==Epidemiology and Demographics==
Hemochromatosis is one of the most common inheritable genetic defects, especially in people of northern European extraction, with about 1 in 10 people carrying a mutation in one of the [[genes]] regulating [[iron]] [[metabolism]].   
Hemochromatosis is one of the most common inheritable genetic defects.<ref name="pmid9138148">{{cite journal| author=Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ| title=Global prevalence of putative haemochromatosis mutations. | journal=J Med Genet | year= 1997 | volume= 34 | issue= 4 | pages= 275-8 | pmid=9138148 | doi= | pmc=1050911 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9138148  }}</ref>  


The [[prevalence]] of hereditary mutations in iron metabolism [[genes]] varies in different populations. In Northern Europeans it is of the order of one in 400 persons.  A study of 3,011 unrelated white Australians found that 14% were [[heterozygous]] carriers of an [[HFE]] mutation, 0.5% were [[homozygous]] for an [[HFE]] mutation, and only 0.25% of the entire population had a clinically relevant [[iron]] overload [[syndrome]]. This means that most patients who are [[homozygous]] for [[HFE]] [[mutations]] will not manifest clinically relevant hemochromatosis .<ref name=Olynwk_1999>{{cite journal |author=Olynyk J, Cullen D, Aquilia S, Rossi E, Summerville L, Powell L |title=A population-based study of the clinical expression of the hemochromatosis gene |journal=N Engl J Med |volume=341 |issue=10 |pages=718-24 |year=1999 |pmid=10471457}}</ref>
'''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.


Other populations probably have a lower prevalence of both the genetic mutation and the clinical disease. It is presumed, through [[Genetics|genetic]] studies, that the original haemochromatosis [[mutation]] arose in a single person, possibly of Celtic ethnicity, who lived 60-70 generations ago. Around that time, when [[nutrition]] was less balanced than today, the presence of a [[mutant allele]] may have provided a [[natural selection]] reproductive advantage in maintaining sufficient [[iron]] levels in the blood. With our current balanced diets, this 'extra help' is unnecessary and indeed harmful.
* C282Y homozygotes account for 82-90% of clinical diagnoses of hereditary hemochromatosis among persons of northern European descent
* Irish have highest prevalence of hemochromatosis.
'''Countries''':


==References==
==References==

Revision as of 21:40, 3 December 2017

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

Overview

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.

Countries:

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.

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