Article
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings.
The Turkish journal of pediatrics - 1 Jan 2020
Çakmaklı Seda, Kaplan Çiğdem, Uzunoğlu Mehmet, Büyükbayram Merve, Görgülü Emel, Zarif Nurten Özkan, Keskin Ebru Yılmaz
Abstract excerpt
Iron-refractory iron deficiency anemia (IRIDA) is an inherited iron metabolism disorder caused by mutations in TMPRSS6 gene encoding matriptase-2, which results in increased hepcidin synthesis. The hallmarks of the disease are hypochromic microcytic anemia, low transferrin saturation, slightly low or normal ferritin levels in contrast to classic iron deficiency anemia (IDA), inadequate response to oral iron, and...
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