Hemochromatosis is a common hereditary disorder in which the body absorbs too much iron from the diet. As a result, iron builds up in the body and gets stored in the joints and organs, specifically the pancreas, heart, and liver. This can then lead to a number of unpleasant symptoms, such as abdominal pain, low energy, fatigue, impotence, joint pain, and a low sex drive. Since several conditions show similar symptoms and many sufferers show no symptoms at all, both in the early stages and in the advanced stages of the disorder, it’s often difficult for doctors to diagnose hemochromatosis.
There are two main types of hemochromatosis, primary and secondary. Primary hemochromatosis runs in families and is most common in white people of northern European descent, whereas secondary hemochromatosis is caused by other conditions, namely chronic liver disease, frequent blood transfusions, kidney dialysis, and certain kinds of anemia. In addition, there are two subtypes of primary hemochromatosis, juvenile hemochromatosis, and neonatal hemochromatosis. The former affects people between 15 and 30 years of age and has similar symptoms to those of primary hemochromatosis, while the latter refers to a severe buildup of iron in the liver of an infant.
Hemochromatosis is associated with a number of complications, most of which arise in the organs storing the excess iron. Damage to the liver may cause cirrhosis, which refers to the permanent scarring of the liver. Damage to the pancreas may cause changes in insulin levels, which can lead to diabetes. Damage to the heart may cause circulation problems and heart failure, while excess iron in the heart can lead to irregular heart rhythm. In addition, excess iron can cause the skin to turn gray or bronze in color. Sufferers of hemochromatosis can reduce the risk of these complications and more by seeking treatment as soon as symptoms appear.
Phlebotomy is the most common course of treatment for hemochromatosis, which refers to the removal of blood from the body via the veins in the arm. It’s very effective in most cases and is usually accompanied by few side effects and little to no pain. Moreover, it’s simpler and cheaper than various other therapy alternatives. That said, a portion of sufferers refuse phlebotomy for reasons such as a fear of needles, fatigue after treatment, a concern of anemia as a result of too much bleeding, pain during the process, and discomfort with the disposal of blood or transfusions.
Doctors must often use several tests in order to confirm a diagnosis of hemochromatosis. Common techniques include blood testing, DNA testing, and liver biopsies. Blood tests are used to check iron levels, and a serum transferrin saturation test can measure how much iron is bound to transferrin. Transferrin is an iron-binding carrier protein that’s found in the blood, and a result equal to or above 45 percent is considered high. DNA tests are used to check for certain mutations, namely the HFE and hemojuvelin genes. A liver biopsy is used to check for iron in the liver or damage to the liver since this organ is often the first to be damaged by elevated levels of iron.