What is hereditary hemochromatosis?
Hereditary hemochromatosis (HH) is a hereditary disease characterised by changes in the metabolization of iron. If diagnosed in a timely fashion, symptoms abate quickly with treatment. Left untreated, the disease may lead to severe organ damage.
The human body absorbs the iron it needs from food. When a sufficient iron level has been reached, a self-regulatory mechanism limits iron absorption. In case of the HH, the body accumulates excessive iron reserves because the regulatory mechanism is damaged.
Over time excess iron accumulates in the cells of the liver, heart, pancreas and joints, etc. causing severe damage in these organs and leading to conditions such as cirrhosis, hepatic cancer, diabetes and cardiac diseases.
Molecular diagnostics of the HFE gene helps to detect up to 90% of HH cases. This method, however, does not provide information about the symptoms –the presence and probable amount of excess iron, as well as the severity of potential tissue damage.
The main aim of the test it to detect the disease for the purposes of timely treatment, which will prevent severe damage to the joints, liver, heart and other organs.
Description of the test
The HFE gene that is responsible for HH was detected in 1996. The most common cause of HH are mutations G(845)A and C(187)G. If a child has inherited both copies of the damaged gene from his or her parents, the child will develop HH at some point in life. People who have only inherited one altered gene do not suffer from HH themselves, but can pass this gene on to their children.
In other words, if both parents are HH carriers, each of their children has a 25% risk of inheriting both copies of the altered gene. In some populations, the mean HH prevalence rate is 0.3%.
Treatment of hemochromatosis
Treatment of hemochromatosis is simple and effective. Normal iron levels are maintained by a painless and relatively cheap procedure – regular phlebotomy (bloodletting). Initially, this procedure has to be performed more frequently, until a normal Fe level in the blood is achieved. In the course of long-term medical follow-up, bloodletting is only ordered if needed to maintain normal Fe levels.
Confidentiality and ethical principles
The results of the test are strictly confidential. They will only be sent to the referring physician, or the patient. The patient may discuss the results of the DNA test with the doctor. The patient’s sample will only be used for the respective test, and under no circumstances will it be used for any other purposes.