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IRIDA syndrome

Orpha number ORPHA209981
Synonym(s) Iron-refractory iron deficiency anemia
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • D50.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.

50 patients from 32 families of different ethnic origin have been described to date; however, it is likely that this condition is underdiagnosed.

Most IRIDA patients have no major clinical signs, except for pallor, and have normal growth and development. The degree of anemia is mostly mild and more pronounced during childhood. If anemia is severe, they may present with weakness, fatigue, dizziness and exercise-induced dyspnea. Laboratory tests show hypochromic, microcytic anemia with very low serum iron and transferrin saturation levels and normal/high serum hepcidin values. Serum ferritin levels are mostly within the normal range, or even slightly elevated after intravenous iron treatment.

IRIDA syndrome is due to mutations the TMPRSS6 gene encoding Matriptase 2, a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis.

Laboratory tests show hypochromic, microcytic anemia with very low serum iron and transferrin saturation levels and normal/high serum hepcidin values. Serum ferritin levels are mostly within the normal range, or even slightly elevated after intravenous iron treatment. Molecular testing confirms the diagnosis.

Transmission is autosomal recessive.

Expert reviewer(s)

  • Dr Mayka SÁNCHEZ FERNÁNDEZ

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