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Hemochromatosis Screening

By: Dr Chris Whittington

The most common gene involved in causing Hereditary Hemochromatosis (HH) is the HFE gene. Most patients with hemochromatosis have two copies of the HFE mutation C282Y. A smaller percentage of patients have one copy of C282Y and one copy of another mutation known as H63D. In persons of northern European extraction approximately 1 in 10 persons carries one copy of C282Y. Carriers of one mutation for C282Y are known as C282Y heterozygotes. Approximately 1 in 200 to 300 persons of northern European extraction carries two copies of C282Y. These persons are known as C282Y homozygotes. In some northern European populations eg Ireland, Iceland and Brittany the percentage of persons carrying one copy of C282Y is higher. Predictably countries settled by northern Europeans eg Australia, South Africa and Canada have high rates of hemochromatosis.

Hereditary Hemochromatosis fits the criteria set by the World Health Organization for population screening for a disease:

1. The homozygous genotype is common and is potentially fatal if not treated

2. The disease has a lengthy latent period with asymptomatic iron accumulation followed by a period of iron overload with reversible organ injury

3. Treatment during the latent period and the period with reversible organ injury restores the life expectancy to normal. (Treatment is safe, effective and cost effective)

4. HH can be detected by measurement of the transferrin saturation (TS).

It is relatively easy to identify asymptomatic persons in whom iron indices are elevated but HH is not clinically apparent. TS values above 45% for women and 55% for men are suggestive of iron overload. TS levels should be fasting values. Borderline values should be repeated. In patients suspected of having iron overload detected by a high TS value further screening should be a ferritin level and HFE gene testing.

Article Source: http://www.health-fitness-for-all.com

www.ironic-health.com

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