GenesHumansMaleFemaleAnemiaIron-Deficiency
TMPRSS6 Non-Coding Variants in the Expression of Iron Refractory Iron Deficiency Anemia in Monoallelic Subjects.
Vera Hoving, Albertine E Donker, Roel J P Smeets, Bert P W J van den Heuvel, Saskia E M Schols, Dorine W Swinkels
Published: 202610.3390/genes17010074
Abstract
BACKGROUND: Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary disorder caused by pathogenic variants in TMPRSS6, characterized by microcytic anemia, low circulating iron levels, and inappropriately high hepcidin levels. Although IRI…
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