The Basics Of Hemochromatosis

Hereditary hemochromatosis is an autosomal recessive blood disorder associated with increased intestinal absorption of iron and deposition of excessive amounts of iron in the vital organs of the body like the liver, pancreas, and other organs.

Among US white population, this disorder is the most common single-gene disorder with approximately one in every 250 to 300 white persons is susceptible for the hemochromatosis gene mutation, and at least one in 10 persons is a carrier for the mutation.

Hereditary hemochromatosis is a hereditary health disorder which is passed from parents to children through the HFE gene whose sole responsibility is to make the body store too much iron. This result in excessive iron in the body commonly called as `iron overload’ causing damage to organs and tissues.

Though iron overload can be occur in people taking an overdose of iron pills over a long period of time or those who have undergone blood transfusion, hemochromatosis is usually hereditary. In some remote cases, iron overload can also occur in certain types of anemia or liver disorders.

Usually hemochromatosis remains latent in young age and becomes evident only in middle-age. Persons with hereditary hemochromatosis absorb only a few milligrams of iron each day in addition to their normal need. Therefore, clinical manifestations often occur only after 40 years of age, when body iron stores have reached 15 to 40 g (normally, the body stores approximately 4 g of iron).

The indications of this disorder are through tiredness, arthritis or impotency. However, it should be noted that these symptoms can occur due to other reasons as well. The symptoms vary from individual to individual and are more visible among men than women.

Among women, heavy blood loss due to menstruation or pregnancy can also be an indication of this kind of disorder. If the iron overload gets too excessive, then the skin may turn into bronze or gray color and liver might get enlarged and/or scarred. Some other indications of this hereditary blood disorder are diabetes, heart problem and trouble with the glands as well as with joints.

The disorder can be diagnosed by doing a series of blood tests and physical examination. If the blood is found to have high content of iron, then a subsequent test for the presence of HFE gene is undertaken. Post this, a liver biopsy is done to ensure smooth functioning of the liver.

In some acute cases, the liver might have cirrhosis which might lead to liver cancer during later stages. Under severe conditions of cirrhosis, liver transplant is often recommended by the doctors.

In case of severe hereditary hemochromatosis, phlebotomy is recommended by the doctor wherein certain amount of blood is removed from the body at regular intervals (weekly). This phlebotomy would be done to remove excess iron from the body for a few months or for a few years depending on the extent of disorder.

After this, at regular intervals the blood is monitored and phlebotomy is conducted to avoid the iron content in the blood going beyond normal. By performing this kind of blood removal, normal level of iron in the blood is ensured.

Patients suffering from this disorder should keep in mind certain steps to regulate their iron content in the blood. They should not take any iron supplements or vitamins with iron in them; they should avoid eating red meat, raw shellfish as well as drinking alcohol. Alcohol reacts with the excessive iron in the blood and causes various types of liver disorders.

The extent of the disorder is reduced if it is diagnosed and treated early and adequate preventive measures are taken into consideration. The patient can lead a normal life if the disorder is treated prior to it affecting the liver or causing cirrhosis.

All individuals who have a history of hereditary hemochromatosis in their family should undergo regular blood tests to check iron overload in their blood. In some cases, the lab results are usually normal; however, these individuals should undergo regular blood tests at frequent intervals.

These individuals should also undergo HFE gene testing to ensure the presence of excessive iron.