Congenital iron metabolism disorders
How is it diagnosed?
IRIDA is suspected in the case of moderate iron deficiency anemia, characterized, however, by extremely low levels of iron, MCV and MCH. In contrast to what is seen in common acquired iron deficiency anemia, ferritin can also be normal or slightly elevated. Frequent causes of iron deficiency (diet with iron deficiency, impaired absorption and chronic blood loss) and inflammatory anemia (in turn, characterized by increased production of hepcidin) should be excluded. Diagnostic confidence is achieved through molecular testing and demonstration of TMPRSS6 mutations. It is likely that in the future, the dosage of serum hepcidin (currently not yet available for clinical use) will facilitate the diagnostic process.
How is it treated?
The disease is benign and treatable with intravenous iron, at least partially. It is important to control anemia with periodic blood and iron tests, especially during childhood, during growth and with excessive menstrual loss, and during pregnancy.