Hereditary hemochromatosis
What is hereditary haemochromatosis?
Hereditary haemochromatosis (HH) is an inherited disease, whereby the patients experience abnormal iron metabolism processes. Symptoms respond well to treatment if the disease is correctly diagnosed in time. If the disease is not treated, it can result in severe damage to various organs.
The human body absorbs the required amount of iron from diet, and if the level of iron is sufficient, there are self-regulation mechanisms to limit any further absorption of the iron. Meanwhile, HH causes the body to accumulate excess iron because these regulatory mechanisms are disrupted.
Over time, excess iron accretes in the cells of the liver, heart, pancreas, joints, and other cells, which can lead to serious damage to these organs. For example, liver cirrhosis, liver cancer, diabetes, heart disease etc.
Molecular diagnostics of the HFE gene help to detect up to 90% of cases. This method does not answer the symptomatic questions — whether and how much excess iron has accumulated, as well as the severity of possible tissue damage.
The main goal of the test is to detect the disease, in order to begin timely treatment and avoid severe joint, liver, heart, and other organ damage.
Test description
The HFE gene, which is responsible for the possibility of inherited HH, was discovered in 1996. The most common cause of HH are two mutations in the HFE gene. If a child inherits both copies of the damaged gene from the parents, it is certain that HH will develop during the child’s lifetime. However, people who inherit only one altered copy of the gene (carriers) do not get HH themselves, but can pass this damaged copy of the gene on to their children. If both the parents are only carriers of HH, there is a 25% chance that their children will receive both copies of the altered gene and, accordingly, more likely develop HH during their lifetime. In different populations, the average incidence of HH is 0.3%.
Haemochromatosis treatment
Haemochromatosis is one of the genetic diseases that can be treated easily and effectively. Iron levels are kept normal with a painless and relatively inexpensive procedure: regular bloodletting. Initially, patients need it more often until normal blood iron levels are reached. Long-term, given medical supervision, blood removal procedures are prescribed only when necessary to maintain normal iron levels.