Haemochromatosis

Hemochromatosis is the most common form of iron overload disease for the liver. Primary hemochromatosis, whch is also known as hereditary hemochromatosis, is an inherited disease. Secondary hemochromatosis is usually caused by anemia, alcoholism, and other disorders.

Juvenile hemochromatosis and neonatal hemochromatosis are two additional forms of the disease. Juvenile hemochromatosis usually leads to very severe iron overload and liver and heart disease in adolescents and young adults. The neonatal form causes rapid iron buildup in a baby’s liver that can also sometimes lead to death

Hemochromatosis causes the body to absorb and store too much iron. The extra iron builds up in the body’s organs and damages them. Without treatment, the disease can sometimes cause the liver, heart, and pancreas to fail.

Healthy people usually absorb about 10 percent of the iron contained in the food they eat, which meets all their normal dietary requirements. People with hemochromatosis absorb up to 30 percent of iron. Over time, they can absorb and retain between five to twenty times more iron than the body needs.Because the body has no natural way to rid itself of the excess iron, it is stored in body tissues, specifically in the liver, heart, and pancreas.

Hereditary hemochromatosis is mainly caused by a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food. The two known mutations of HFE are C282Y and H63D. C282Y is the more important. In people who inherit C282Y from parents, the body absorbs too much iron and hemochromatosis can result. Those who inherit the defective gene from only one parent are carriers for the disease but usually do not develop it; however, they still may have higher than average iron absorption. Neither juvenile hemochromatosis nor neonatal hemochromatosis are caused by an HFE defect. Juvenile and neonatal hemochromatosis are caused by a mutation in a gene called hemojuvelin.

Note that hereditary hemochromatosis is one of the most common genetic disorders. It most often affects Caucasians of Northern European descent, although other ethnic groups are also sometimes affected. Patients carry two copies of the hemochromatosis gene and are susceptible to developing the disease. Hemochromatosis is less common in African Americans, Asian Americans, Hispanics/Latinos, and American Indians.Although both men and women can inherit the gene defect, men are more likely than women to be diagnosed with hereditary hemochromatosis at a younger age.

Joint pain is another most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, sometimes in loss of sex drive, and heart problems. However, many people have no symptoms when they are diagnosed.

If the disease is not detected and treated early, iron may accumulate in body tissues and eventually lead to serious problems such as liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure.

Treatment is simple, inexpensive, and safe. The first step - rid the body of excess iron. This is called phlebotomy, which means removing blood the same way it is drawn from donors at blood banks. Based on the severity of the Fe overload, a pint of blood will be taken 1 or 2 times a week for several months to a year, and occasionally longer. Blood ferritin levels will be tested periodically to monitor iron levels. The goal is to bring blood ferritin levels to the low end of normal and then keep them there.

Once iron levels return to normal regions, maintenance therapy begins, which involves giving a pint of blood every 2 to 4 months for life. Some people may need phlebotomies more often. An annual blood ferritin test will help determine how often blood must be removed.

If treatment begins before organs are completely damaged, associated conditions such as liver disease can be prevented. The outlook for people who already have these conditions at diagnosis depends on the deg of organ damage. For example, treating hemochromatosis can stop the progression of liver disease in its very early stages, which leads to a normal life expectancy. However, if cirrhosis, or scarring of the liver, has developed, the person’s risk of developing liver cancer increases more and more, even if iron stores are reduced to normal levels.