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HEREDITARY 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.

SIGNS AND SYMPTOMS

In the early stages of HH, it is asymptomatic but if the total amount of iron continues increasing, the following symptoms will become apparent:

  • Joint and bone pain (the most common)
  • Fatigue
  • Abdominal pain
  • Decreased libido
  • Cardiac problems
  • Damage to the adrenal gland, leading to adrenal insufficiency

If the illness is not treated in its early stages, the iron can accumulate in the body´s tissues causing more serious problems such as:

  • Arthritis of the hands (especially the second and third MCP joints), but also the knee and shoulder joints
  • Liver cirrhosis, hepatomegaly, cirrhosis , cancer and renal insufficiency
  • Pancreatic problems causing insulin resistance and diabetes
  • Congestive heart failure, abnormal heart rhythms or pericarditis
  • Erectile dysfunction and hypogonadism
  • Early menopause
  • Darkening of the skin
  • Thyroid deficiency
  • Damage to the adrenal gland, leading to adrenal insufficiency

RISK FACTORS

The factors that increase the possibility of developing hemochromatosis are:

  • Family history
  • Men: HH onset between the ages of 30 – 50. It affects men 5 times more frequently than women.
  • Women over 50 years of age (postmenopausal)
  • Eastern or northern European origins
  • Alcoholism (can provoke hepatic illnesses and secondary hemochromatosis)

PREVENTION

Hemochromatosis can be prevented only by restrictions. Changes in life style and measures to reduce iron intake prevents possible triggering effects and therefore, help to protect the liver:

  • Avoid excessive consumption of red meats and uncooked shell fish
  • Avoid vitamin C supplements and iron supplements
  • Avoid alcohol consumption

Nevertheless, there are no measures that can be taken to prevent hereditary hemochromatosis. It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected by the HFH mutation, are carriers, or are at risk of being carriers or affected. If the genetic mutation is found in only one parent or neither, a genetic mutation of hemochromatosis in offspring can excluded.

GENE OR REGION STUDIED


  • HFE