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Article

New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.

International journal of molecular sciences - 15 Apr 2022

Romero-Cortadellas Lídia, Hernández Gonzalo, Ferrer-Cortès Xènia, Zalba-Jadraque Laura, Fuster José Luis, Bermúdez-Cortés Mar, Galera-Miñarro Ana María, Pérez-Montero Santiago, Tornador Cristian, Sánchez Mayka

Abstract excerpt

Divalent metal-iron transporter 1 (DMT1) is a mammalian iron transporter encoded by the SLC11A2 gene. DMT1 has a vital role in iron homeostasis by mediating iron uptake in the intestine and kidneys and by recovering iron from recycling endosomes after transferrin endocytosis. Mutations in SLC11A2 cause an ultra-rare hypochromic microcytic anemia with iron overload (AHMIO1), which has been described in eight...

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PMID: 35457224
DOI: 10.3390/ijms23084406
PMCID: PMC9024435

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