Iron-Refractory Iron Deficiency Anemia (IRIDA) | Symptoms & Causes

What are the symptoms of iron-refractory iron deficiency anemia?

The symptoms of iron-refractory iron deficiency anemia (IRIDA) in children are similar to the symptoms of all forms of anemia and iron deficiency.

Typical anemia symptoms include:

  • fatigue, weakness
  • irritability
  • exercise/feeding intolerance
  • exertional dyspnea
  • headache, vertigo
  • pale skin

Symptoms of iron deficiency include:

  • pica (craving of non-food items – such as clay, dirt, paper, ice, baby powder, starch)
  • poor sleep or restless leg syndrome
  • angular cheilitis (sore lesions at the corners of the mouth)

In rare cases, children with iron deficiency anemia may also experience:

  • nail changes (koilonychia or spoon nails)
  • alopecia (hair loss) is rarely experienced
  • atrophic glossitis (tongue swelling/pain or dry mouth)
  • dysphagia (difficulty swallowing) 

What causes IRIDA?

IRIDA is caused by mutations in the gene TMPRSS6. It is inherited as an autosomal recessive disorder, which means both parents must have a copy of the gene mutation and pass it on to their child. Therefore it may be seen in several of the child’s family members. The TMPRSS6 gene encodes a particular liver protein that regulates the production of hepcidin, an iron regulatory hormone. In children with IRIDA, the TMPRSS6 mutation causes elevated levels of hepcidin, which ultimately impairs the body’s ability to both absorb and use iron. There is some evidence that relatives that carry one abnormal copy of TMPRSS6 (e.g., parents) are more susceptible to acquired iron deficiency.