European Hematology Association - Mutations in PIGA Cause a New Form of Juvenile Hemochromatosis
Retrieved on:
Friday, June 11, 2021
In addition to the frequent late-onset subtype of hemochromatosis, rare forms have been described with severe iron accumulation in children.
Key Points:
- In addition to the frequent late-onset subtype of hemochromatosis, rare forms have been described with severe iron accumulation in children.
- Our work identifies a novel subtype of juvenile hemochromatosis due to mutations in the phosphatidylinositol glycan class A (PIGA) gene, which anchors proteins to the cell membrane.
- Systemic iron overload and PIGA mutations were diagnosed in three juvenile patients with neurological deficits.
- This new link advocates for the need for clinical assessment of potential iron overload in patients with germline PIGA mutations.