INSTITUTE
OF GENETICS & CYTOLOGY

Hereditary hemochromatosis is the most common monogenic disease in the world.

Hereditary hemochromatosis is caused by single-nucleotide substitutions in the second and fourth exons of the HFE gene. Hemochromatosis is characterized by an increase in the total amount of iron due to its abnormally high absorption in the intestine and its accumulation in parenchymatous organs. Most often, disease symptoms develop in adulthood. Early symptoms are multisystemic and are often nonspecific. In the late stages of the disease, diabetes, arthritis, congestive heart failure and liver cirrhosis develop.