Haemochromatosis - I think my dad has it?
|My dad is 57 and has always had a really red face. A nurse friend of ours suggested that he might have haemochromatosis. She said that it is genetic and can eventually affect the heart. He does not suffer from blood pressure and does not drink excessively. Could he have this condition?|
Haemochromatosis is due to a defect in a gene called HFE, which is concerned with iron regulation in the body. The defect is present at birth but rarely presents before middle age. If a person inherits the defective gene from both parents they go on to develop haemochromatosis many years later but if they have only inherited the defect from one parent they become a carrier. The essential problem with this condition is that iron metabolism becomes abnormal leading to an increase in iron levels throughout the body, which ultimately leads to toxic effects in various organs. Unfortunately haemachromatosis is a great masquerader and may present in many forms depending on which organs are most affected by the iron accumulation. In many cases the diagnosis may not become apparent until significant damage is caused to various organ systems. People with haemochromatosis often develop skin pigmentation resulting in a gray or even bronze skin colour. I note your comment that your father has always had a red face, which would be a mark against him having this condition. Sufferers frequently develop arthritis and most develop various liver problems including hepatitis, cirrhosis, liver failure or liver cancer. Some develop cardiac problems including rhythm disturbances and heart failure. Excess levels of iron in the pancreas may give rise to diabetes and some may develop problems with thyroid function due to the level of iron in that gland. Once the condition is suspected it can be diagnosed with blood tests, which simply indicate that the levels of iron in the body are excessive. Treatment requires frequent phlebotomy, which means that blood is removed from the body at regular intervals in the same process that is used for taking a blood donation. Depending on the amount of iron overload it may take 100 phlebotomies to drop the blood values back to normal levels. Once the target level is reached the person is monitored for the rest of their lives with phlebotomy being undertaken perhaps a couple of times each year. I think it is unlikely that your father has this condition but if he is concerned that he might have it, that question can be addressed if he attends his GP to arrange a blood test.