Hemochromatosis epidemiology and demographics: Difference between revisions
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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, especially in people of northern European extraction, with about 1 in 10 people carrying a mutation in one of the [[genes]] regulating [[iron]] [[metabolism]]. | ||
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 | 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> | ||
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. | 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. | ||
Revision as of 14:12, 29 August 2012
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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.
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 .[1]
Other populations probably have a lower prevalence of both the genetic mutation and the clinical disease. It is presumed, through 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.