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Hemochromatosis is a disease characterized by excessive deposition of iron (iron) in the body caused by increased intestinal absorption of iron. There are other conditions in which excess iron accumulates, as people who have received multiple transfusions of red blood cells or people with hemolytic anemias, however, in these conditions tend to speak of “iron overload” rather than hemochromatosis.

Pathogeny

It has advanced tremendously in the last decade in understanding the mechanisms involved in the regulation of iron metabolism and alterations that can lead to excessive accumulation.

Hemochromatosis is a genetic disease commonly caused by mutations in a gene called HFE, located on chromosome 6, identified in 1996. This disease is autosomal recessive, ie it takes a mutation in both alleles to be expressed clinically. The most frequent mutation causes the substitution of a cysteine ??in protein tyrosine (C282Y mutation). A second mutation (H63D) can cause the disease when the patient is compound heterozygote (C282Y/H63D).

The mutation of this protein that regulates iron absorption in the intestine, leading to progressive accumulation of iron in the body probably because it serves as a regulatory factor of the interaction of transferrin with its receptor on the enterocyte. Having a mutation in HFE, this interaction decreases, giving a false signal intestinal cell that iron stores are low, which increases the expression of duodenal iron transporter (DMT1). Excess iron causes cell damage by different mechanisms, probably the most important being the generation of oxidative damage by generating free radicals. The tissues most affected are the liver, myocardium and endocrine glands.

HFE gene mutations account for most cases (80 to 100%) in the Caucasian population, however, in other populations such as Asia and Latin America is interesting to note that most patients with hemochromatosis do not have these mutations. We have investigated mutations in genes encoding other proteins involved in iron metabolism:

- Ferroportin
- Hemojuvelin
- Hepcidin
- Transferrin receptor 2 (TRF2)

Possibility Related Posts:

• Diagnosis and Treatment of Hemochromatosis
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