IRIDA syndrome

IRIDA syndrome is a rare condition that affects the way the body processes iron. It is characterized by iron deficiency anemia, specifically a hypochromic and microcytic type, which means that the red blood cells are pale and smaller than usual. This disorder is considered rare and follows an autosomal recessive pattern, meaning that affected individuals inherit two copies of the gene mutation, one from each parent. People with IRIDA syndrome often do not respond to oral iron supplements, and treatment with parenteral iron may only result in partial improvement. This condition highlights a distinct problem with iron metabolism, setting it aside from common forms of iron deficiency anemia.

Common symptoms of this condition include signs of iron deficiency anemia such as fatigue, weakness, and the characteristic appearance of red blood cells being pale and smaller than normal. These features are due to the low levels of iron in the blood.

IRIDA syndrome is caused by genetic mutations that affect iron metabolism. It follows an autosomal recessive pattern, which means that a child needs to inherit two faulty copies of the gene, one from each parent, to develop the condition. Some of the genes linked to the condition include SNRPN, NDN, HFE, and TMPRSS6.

Treatment for IRIDA syndrome can be challenging because people with this condition usually do not respond well to oral iron supplements. Some benefit from parenteral iron treatment, although the response may be only partial. Healthcare providers look at a combination of symptoms, blood tests, and medical history to guide treatment decisions.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.