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Hemochromatosis is a disease characterized by excessive accumulation of iron in the body
Hemochromatosis is a disease characterized by an excessive buildup of iron in the body. Primary hemochromatosis is inherited, while secondary hemochromatosis is caused by other disorders, such as thalassemia, anemia, alcoholism, and others.
People with this disease absorb too much iron from food, which they later store in organs and tissues of the body, especially in the pancreas, heart, and liver.
The first symptoms of hemochromatosis are rather non-specific and include abdominal pain, fatigue, loss of sex drive, lack of energy, weight loss, loss of body hair, or joint pain. As the disease progresses, the symptoms worsen and patients may experience arthritis, diabetes, darkening of the skin, and even heart or liver problems, where we can usually see an increase in the size of the liver due to inflammation known as hepatomegaly.
Depending on when the symptoms start, we distinguish between several types of hemochromatosis. Types 1 and 4 are the most common and occur in adulthood. In types 2 and 3, symptoms usually appear around 20 and 30 years old, respectively. The disease occurs rarely before birth, which is known as neonatal hemochromatosis.
Treatment of hemochromatosis is based on removing excess iron from the body. This is usually done with periodic blood draws, through a process called phlebotomy, until iron levels drop.
These patients usually follow a special diet with the aim of reducing the amount of iron and are not allowed to consume alcohol, especially patients with liver damage, and food supplements that may contain iron.
The outlook for individuals with this disease will depend on the organ damage from iron accumulation. If hemochromatosis is detected early and treated properly, damage can be significantly reduced.
Each of the types of this disease is produced by mutations in different genes.
Hemochromatosis type I, which is the most common form, is caused by mutations in the HFE gene, while mutations in the HFE2, TFR2, and SLC40A1 genes cause types 2, 3, and 4, respectively. These genes are involved in different processes related to the absorption, transport and storage of iron in the body. Hence, an alteration in them causes excessive accumulation of iron in different organs and tissues.
In general, hemochromatosis affects more men than women and is more common in white people from Western Europe. In Spain, hemochromatosis affects one in 500-1,000 people.
Types 1, 2, and 3 follow an autosomal recessive pattern of inheritance. Most parents of these cases are carriers, but do not suffer from the disease and show no symptoms. Hemochromatosis type 4 is autosomal dominant, and patients generally have an affected father.
As for neonatal hemochromatosis, both the genes involved in the development of the disease and the inheritance pattern are unknown.
Screening is recommended for family members of a person diagnosed with hemochromatosis, as this can detect the disease early and treatment can be started before organ damage develops in other family members.