5. Iron-refractory Iron Deficiency Anemia (IRIDA)
Iron-refractory iron deficiency anemia (IRIDA) is a rare genetic disorder that results in impaired absorption of dietary iron and decreased utilization of iron for red blood cell production. This condition leads to hypochromic microcytic anemia that is unresponsive to oral iron supplementation.
IRIDA is caused by mutations in the TMPRSS6 gene, which encodes a protein called matriptase-2. Matriptase-2 plays a crucial role in regulating hepcidin, a hormone that controls iron absorption and distribution within the body. Mutations in the TMPRSS6 gene lead to increased hepcidin levels, which in turn cause reduced iron absorption from the diet and limited release of stored iron.
Treatment for IRIDA typically involves intravenous iron infusions to bypass the impaired absorption mechanism. These infusions may be required periodically to maintain adequate iron levels and alleviate anemia symptoms. In some cases, blood transfusions may also be necessary, especially in situations of acute blood loss or when intravenous iron therapy is insufficient.
It’s essential for individuals with IRIDA to work closely with their healthcare team to develop a tailored treatment plan and monitor progress regularly. Early diagnosis and intervention are crucial for managing IRIDA effectively and preventing complications associated with chronic anemia. (3)
