Hemochromatosis

Excerpt

Primary hemochromatosis is an autosomal recessive disorder, particularly among those of northern European descent, that disrupts the body’s ability to regulate iron absorption, leading to systemic iron overload. Despite the high prevalence of the gene mutation, the condition often shows variable clinical expression with low penetrance. Excess iron accumulates in critical organs, including the liver, pancreas, heart, joints, skin, and pituitary gland, leading to cellular dysfunction. The condition is typically diagnosed in middle age; women are often diagnosed later in life due to the iron loss associated with menstruation. Symptoms are generally nonspecific, and many cases are discovered through elevated transaminase, ferritin, and transferrin saturation levels.

While primary hemochromatosis is hereditary, secondary hemochromatosis can develop from disorders in erythropoiesis or as a result of treatments involving blood transfusions, such as in thalassemia, sickle cell anemia, and hereditary spherocytosis. These secondary conditions lead to iron accumulation from damaged red blood cells, further complicating iron regulation. Phlebotomy is the primary treatment, reducing iron levels and improving organ function. In severe cases, particularly when liver damage is extensive, liver transplantation may be necessary. Relatives of individuals with hereditary hemochromatosis are advised to undergo genetic testing to assess their risk.