Hereditary hemochromatosis

Overview

Hereditary hemochromatosis is one of the most common genetic disorders in the U.S. It is a metabolic disorder that causes increased absorption of iron from the digestive tract. The iron is deposited in the body tissues and organs. Over time, the iron accumulates in the body where it may become toxic and cause damage. Excess iron in the heart, liver, pancreas, and pituitary causes the more severe complications of hereditary hemochromatosis. 

Causes

Hemochromatosis is a genetic (inherited) disease, often most prevalent among Caucasian people.. A person will be born with hemochromatosis if two hemochromatosis genes are inherited--one from the mother and one from the father.

A person who has only one hemochromatosis gene is healthy and said to be a carrier of the gene. A carrier has an increased chance to have a child with hemochromatosis. This type of inheritance is called autosomal recessive. Autosomal means that the gene is on one of the first 22 pairs of chromosomes, and not on the X or Y chromosome. Therefore, males and females are equally affected by the disease. Recessive means that two copies of the gene, one inherited from each parent, are necessary to have the condition. Once parents have had a child with hemochromatosis, there is a one in four, or 25 percent, chance with each future pregnancy for another child to be born with hemochromatosis. This means that there is a three out of four, or 75 percent, chance for another child to not have hemochromatosis. First-degree relatives of people with known hemochromatosis should undergo screening for the disorder.   

According to the CDC, more than one million people in the U.S. have the gene mutation that can cause hemochromatosis. Although hemochromatosis is an autosomal recessive disorder (which usually means men and women are equally affected), iron overload from hereditary hemochromatosis is more common in men than women. The age of onset is also earlier in males than females. The reasons for these differences are thought to be because of the protective effect of iron loss through menstruation in females. In other words, females do not build up iron as quickly over time.

Symptoms

The following are the most common symptoms of hemochromatosis. However, each individual may experience symptoms differently.

Symptoms may include:

  • Lethargy and weakness
  • Irritability
  • Depression
  • Joint pain
  • Bronze or yellowish skin color
  • Loss of body hair
  • Impotence in men
  • Amenorrhea in women
  • Infection

Untreated or severe hemochromatosis may lead to the following:

  • Liver function abnormalities and enlargement
  • Abnormal heart rhythm
  • Heart failure
  • Enlarged spleen
  • Diabetes

Diagnosis

Hemochromatosis is usually discovered during a medical examination through a routine blood test. In addition to a complete medical history and physical examination, diagnostic procedures for hemochromatosis may include the following:

  • Iron levels - People with hemochromatosis have higher levels of iron in their blood. 
  • Transferrin saturation test (TS) - A type of iron study (blood test) that measures the percentage of transferrin and other mobile, iron-binding proteins saturated with iron. It is helpful in finding early hemochromatosis.  
  • Ferritin levels - Ferritin is a protein in the blood that increases when iron stores in the body increase. It rises most significantly when iron levels are quite high. 
  • Liver biopsy - A procedure performed to remove tissue or cells from the liver for examination under a microscope and to weigh the iron in the liver. 
  • Genetic testing - A blood test that looks for the mutations that cause hereditary hemochromatosis. 

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