Natural History of Recessive Inheritance of DMT1 Mutations

A. Iolascon, C. Camaschella, D. Pospisilova, C. Piscopo, G. Tchernia, C. Beaumont

Research output: Contribution to journalArticlepeer-review

Abstract

DMT1 deficiency causes microcytic hypochromic anemia due to decreased erythroid iron utilization. Anemia is present from birth. Transferrin saturation is high and serum ferritin is mildly elevated, despite liver iron overload. DMT1 deficiency must be considered in the differential diagnosis of microcytic hypochromic anemia observed in the newborn period.

Original languageEnglish
Pages (from-to)136-139
Number of pages4
JournalJournal of Pediatrics
Volume152
Issue number1
DOIs
Publication statusPublished - Jan 2008

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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