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INHERITED MONOGENIC DISEASES

           

Hereditary hemochromatosis associated with HFE

Hemochromatosis is an illness in which the organism accumulates too much iron, an indispensable element for health. When there is an excess of iron, it is not possible to control its functions, converting it into a harmful substance capable of generating free radicals.

Free radicals are highly reactive chemical substances that irreversibly damage the molecules they react with. This molecular damage then becomes tissue and organ damage. The liver, pancreas, heart, hormonal systems and joints are the organisms most affected.

There are various types of hemochromatosis:

  • Primary or hereditary hemochromatosis (HH): this type is brought on by inherited genes that cause the stomach and intestines to absorb too much iron.
  • Secondary hemochromatosis: this type is caused by treatments or illnesses that cause an overload of iron in the body. This includes an excess of iron in nutrition, juvenile hemochromatosis, anemia, thalassemia major, sickle-cell disease, chronic anemia) chronic hepatic illness, etc.

If the hemochromatosis is detected early, it is easy to treat. Nonetheless, if it is not treated, the accumulated iron can cause serious damage to the liver, pancreas, heart, hormonal systems, pituitary glands and joints leading to liver cirrhosis, liver cancer, diabetes, heart and joint disease.

Hemochromatosis is caused by an autosomal recessive genetic defect, which means that the child will probably develop hemochromatosis if the two mutations of the HFE gene, one from each parent, are inherited. However, not all persons with two copies of the gene will develop the signs and symptoms of HH.

GENE OR REGION STUDIED


  • HFE