Eisenspeicherkrankheiten

Eisenspeicherkrankheiten, also known as hemochromatosis, are a group of genetic disorders characterized by the excessive accumulation of iron in the body. This excess iron can lead to organ damage, particularly in the liver, heart, and pancreas. There are two main types of hemochromatosis: hereditary hemochromatosis (HH) and secondary hemochromatosis.

Hereditary hemochromatosis is an autosomal recessive disorder, meaning that an individual must inherit two defective genes, one from each parent, to develop the condition. The most common genetic mutation associated with HH is the C282Y mutation in the HFE gene. Individuals with HH typically have high levels of iron in their blood and tissues, leading to iron overload and subsequent organ damage.

Secondary hemochromatosis, on the other hand, is not genetic but rather results from repeated blood transfusions, chronic liver disease, or other conditions that lead to increased iron absorption or reduced iron excretion. This type of hemochromatosis is more common in individuals with blood disorders or those who have undergone multiple transfusions.

The diagnosis of hemochromatosis involves measuring iron levels in the blood and tissues, as well as assessing organ function. Treatment options for hemochromatosis include phlebotomy (bloodletting) to reduce iron levels, iron chelation therapy to bind and remove excess iron, and, in some cases, liver transplantation. Early diagnosis and treatment are crucial to prevent the progression of organ damage and improve long-term outcomes.