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(Iron Overload)

Hemochromatosis Facts

  • Hereditary hemochromatosis (HH) is a genetic disorder that causes excess iron retention in the body. This disorder is a common among Caucasians of Northern European origin.
  • In normal individuals, the balance of iron concentration in the body is regulated by the amount of iron stored in the body. Iron may be lost in the sweat, shed from the skin, and excreted from the cells in the intestines. Approximately 1 milligram of iron is lost from the body daily via these routes in a healthy individual. More iron can be lost in women during menstruation. Normally, 1 milligram of iron is regained daily by the intestines from dietary sources.
  • In hemochromatosis, this regulatory mechanism is impaired and an excess amount of iron is absorbed from the intestines regardless of the iron stores already in the body, resulting in iron overload. Because the body does not have a mechanism to rid the excess iron, this imbalance between gains and losses results in accumulation of the extra iron in some of the organs in the body.
  • The iron overload in hereditary hemochromatosis can affect many organs in the body including the:
    • skin,
    • joints,
    • testicles,
    • liver,
    • pancreas,
    • thyroid, and
    • heart.
  • As a result of this excess iron build-up in the organs, hemochromatosis can be manifested by dysfunction of the involved organ(s). Signs may include:
  • It is important to note that some individuals may not have any signs or symptoms associated with hemochromatosis.
  • Hereditary hemochromatosis is an autosomal recessive genetic abnormality, meaning that both copies of the involved gene (one from each parent) are abnormal. The genetic abnormality in hereditary hemochromatosis affects the so-called HFE gene which was discovered in 1996.

Hemochromatosis Causes

As mentioned earlier, hemochromatosis is a genetic hereditary disorder. In each individual, there are 23 pairs of chromosomes (carrying genetic information) in every cell in their body. Each of these pairs contains one chromosome from each parent. Chromosomes contain DNA which carries the genetic blueprint of all the activities and functions in the human body. Small disturbances in the DNA structure (mutations) can potentially result in genetic conditions which can be passed on to offspring.

Hereditary hemochromatosis is thought be the result of a genetic mutation. This condition is inherited in an autosomal recessive fashion, meaning both genes (one from each parent) have a specific mutation. This is in contrast to conditions termed autosomal dominant, in which only one defective gene from a single parent needs to be inherited in order to manifest the condition.

The HFE gene responsible for hereditary hemochromatosis is located on chromosome number 6. The primary mutations for hereditary hemochromatosis are the C282Y, H63D, or S65C. These numbers specify the location of the mutation on the HFE gene. Based on genetic testing, a majority (up to 95%) of cases of hereditary hemochromatosis are caused by homozygote C282Y mutations, that is to say both genes (one from each parent) have inherited this specific mutation. Some cases may be inherited in a heterozygous pattern, meaning the C282Y abnormality comes from one parent and either the H63D or S65C mutation comes from the other parent.

Medically Reviewed by a Doctor on 11/17/2017

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Hemochromatosis Genetic Screening

Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron. This causes iron to build up in the blood, liver, heart, pancreas, joints, skin, and other organs.

In its early stages, hemochromatosis can cause joint and belly pain, weakness, lack of energy, and weight loss. It can also cause scarring of the liver (cirrhosis), darkening of the skin, diabetes, infertility, heart failure, irregular heartbeats (arrhythmia), and arthritis. But many people do not have symptoms in the early stages.

In men, hereditary hemochromatosis is usually found at ages 40 to 60. In women, it is not usually found until after menopause because, until that time, women regularly lose blood and iron during their monthly periods.

SOURCE: HealthWise

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