Article
Is the acronym IRIDA acceptable for slow responders to iron in the presence of TMPRSS6 mutations?
The Turkish journal of pediatrics - 1 Jan 2000
Yilmaz-Keskin Ebru, Sal Ertan, de Falco Luigia, Bruno Mariasole, Iolascon Achille, Koçak Ulker, Yenicesu Idil
Abstract excerpt
Iron refractory iron deficiency anemia (IRIDA) is a recently described autosomal recessive disorder caused by mutations in TMPRSS6, the gene encoding matriptase-2. Patients have inappropriately high levels of hepcidin. Hypochromic microcytic anemia refractory to oral iron and only partially responsive to parenteral iron is the hallmark of this disorder. We report six patients from three unrelated families with...
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