Iron-Refractory Iron Deficiency Anemia

What is iron-refractory iron deficiency anemia?

Iron-refractory iron deficiency anemia (IRIDA) is a rare, inherited form of iron deficiency anemia. Iron deficiency anemia occurs when red blood cell counts are low due to a lack of iron. 

While iron deficiency anemia is generally an acquired disease and due to insufficient iron in the child’s diet or chronic blood loss, children with IRIDA are born with a gene mutation that causes iron deficiency.

Common forms of acquired iron deficiency anemia are usually easily treated by oral iron supplements or intravenous (IV) iron infusions, but children with IRIDA will not respond fully to those treatments. 

Children with IRIDA typically start to experience symptoms in infancy or early childhood.

How we care for IRIDA

Dana-Farber/Boston Children's Cancer and Blood Disorders Center is an international leader in the diagnosis and treatment of rare iron disorders. Through our Rare Anemias and Iron Disorders Program, children and families with rare iron disorders, such as IRIDA, have access to world-renown multidisciplinary teams of hematologists, pathologists and researchers.

Our areas of IRIDA research

IRIDA was first identified in 2008, when researchers at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center discovered that most children and adults with a type of iron deficiency anemia that doesn’t respond to iron supplementation seemed to harbor mutations in the TMPRSS6 gene. This research led to the recognition of a new clinical entity: iron-refractory iron deficiency anemia (IRIDA). Since that time, Dana-Farber/Boston Children’s researchers continue to lead the way in research and treatment of IRIDA — including building our understanding of the IRIDA clinical features and performing IRIDA genetic studies.

If you, your child or other family members have the key features of IRIDA, we invite you to contact us for an evaluation or to learn more about our research. We have an open research protocol that is helping to build our understanding of the key features and genetic underpinnings of IRIDA. Through this protocol, children and adults who choose to participate will agree to provide blood and urine samples. Our researchers will then use those samples to assess iron proteins in the blood, hepcidin level in the blood and urine, and to sequence the TMPRSS6 gene. In ongoing work, the team is working toward identifying other genes responsible for IRIDA and is using a novel test for hepcidin to discriminate patients with IRIDA from patients with complicated acquired iron deficiency. This testing is being performed primarily to increase scientific knowledge. However, if an individual’s test reveals information that could be of clinical benefit, those results will be returned to you and your doctor so that they can be confirmed in a certified diagnostic laboratory — as long as you indicate an interest in the results when signing up for the study.

To learn more about the study, contact Mark D. Fleming, MD, DPhil, at 617-919-2664.

Our published research