Hemochromatosis – Top USMLE Diseases

Hereditary hemochromatosis (HH), also termed “genetic hemochromatosis”, is a genetic autosomal recessive disorder which occurs as a result of genetic mutations of certain genes (HFE gene) involved in the metabolism of iron, resulting in increased intestinal iron absorption. Common initial symptoms comprise abdominal pain, paleness, lethargy, and weight loss. The start of symptoms is between 30 to 50 years in males and afterward menopause in females. If left untreated, hemochromatosis could cause serious disease and early death. The keystone of screening is the level of serum transferrin saturation as well as the serum ferritin level. Definition, risk factors, pathophysiology, clinical features, investigations and treatment of hemochromatosis will be discussed in this article.