What is Hemochromatosis

Hemochromatosis is an iron overload disease where the body absorbs and retains too much iron than is necessary leading to an iron build up in different body tissues. Iron is an important mineral found in some foods, lack of which leads to anemia. On the other hand, too much iron causes toxicity in the body. In good health, the body absorbs only about 10% of the iron contained in foods. In hemochromatosis however, iron absorption is elevated to about 30% of the total intake which leads to retention of 5 to 20 times more iron than is needed by the body. The body is unable to excrete the excess iron naturally. Instead, the iron is stored in body tissues such as the liver, pancreas and heart leading to complications in these organs.

Types of hemochromatosis

Basically, there are two types of hemochromatosis which are

  • Primary hemochromatosis
  • Secondary hemochromatosis

Primary hemochromatosis is genetic and as such, hereditary. It is caused by a defect in the HFE gene that regulates iron absorption in the body. This defect is usually as a result of a mutation. Individuals who inherit the mutated gene from only one parent do not develop the condition and are instead carriers. Those who inherit two mutated hemochromatosis genes from each parent develop primary hemochromatosis. Secondary hemochromatosis results from an underlying disease that impair iron absorption causing iron overload.

There are two more types of hemochromatosis seen in young and infants which include;

  • Juvenile hemochromatosis: This causes iron overload in people aged between 15 and 30 causing liver and heart complications.
  • Neonatal hemochromatosis: This usually causes rapid iron buildup in the liver of a neonate and may cause death.

Risk factors

There are some people who are more predisposed to developing hemochromatosis than others. The disease is more common in native Northern European Caucasians and less common in African Americans, Hispanics, Asian Americans and American Indians.

Symptoms

The commonest symptoms of iron overload include;

  • Joint pains
  • Abdominal pain
  • Lack of energy
  • Fatigue
  • Heart complications
  • Loss of sex drive

When the disease fails to be detected early enough serious complications may arise such as;

  • Liver disease and failure
  • Pancreatic disease leading to diabetes
  • Heart conditions such as arrhythmias and failure
  • Arthritis
  • Sterility and early menopause
  • Thyroid deficiency and adrenal glands damage

There are some things that increase the severity of the disease symptoms. Excess intake of Vitamin C for instance will cause more absorption of iron worsening the condition. Alcohol intake may also worsen liver problems.

Diagnosis and treatment

Hemochromatosis is diagnosed through blood tests such as serum ferritin test which measure iron level in the blood, total iron binding capacity test and liver biopsy to gauge accumulation level. Treatment is administered by a hepatologist and is aimed at treating and reversing symptoms.

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