Hereditary Hemochromatosis

Hereditary Hemochromatosis - Causes, Symptoms, Diagnosis and Treatment

What is hemochromatosis?

Hereditary hemochromatosis is one of the most common genetic disorder in the U.S. It is a metabolic disorder that causes increased absorption of iron, which is deposited in the body tissues and organs. The iron accumulates in the body where it may become toxic and cause damage.

Other forms of hemochromatosis include:

  • Juvenile hemochromatosis--affects adolescents and young adults ages 15 to 30. This form leads to a severe overload of iron which can cause heart and liver disease.

  • Neonatal hemochromatosis--in this form, iron builds up very quickly in an infant's liver and can cause.

  • Transfusion related hemochromatosis--this is a result of iron overload caused by many blood transfusions in patients with disorders that cause them to not make enough red blood cells.

What causes hemochromatosis?

Hemochromatosis is a genetic disease, often most prevalent among people of northern European descent. This means that hemochromatosis is inherited. A person will be born with hemochromatosis only 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.

The carrier frequency is estimated at one in eight to one in 12. Although hemochromatosis is an autosomal recessive disorder (which usually means men and women are equally affected), iron overload from hereditary hemochromatosis is five times 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 due to iron loss through menses in females. In other words, females do not build up iron as quickly over time.

What are the symptoms of hemochromatosis?

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

Untreated or severe hemochromatosis may lead to the following:

  • Abnormal heart rhythm

  • Congestive heart failure

  • Enlarged liver

  • Enlarged spleen

  • Diabetes

The symptoms of hemochromatosis may resemble other medical problems. Always consult your doctor for a diagnosis.

How is hemochromatosis diagnosed?

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:

  • 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.

  • 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.

Treatment for hemochromatosis

Specific treatment for hemochromatosis will be determined by your doctor based on:

  • Your age, overall health, and medical history

  • Extent of the disease

  • Your tolerance for specific medications, procedures, or therapies

  • Expectations for the course of the disease

  • Your opinion or preference

Treatment may include:

  • Periodic phlebotomy--a procedure that involves removing blood from the body. Done regularly at first, once iron stores have returned to normal it can be done once or twice a year as needed

  • Diet modification

  • Treatment of the resulting diseases or conditions

If hereditary hemochromatosis is discovered and iron stores returned to normal before damage to organs occurs, patients with it will live a normal lifespan.