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JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
Natural history of recessive inheritance of DMT1 mutations.
Journal of Pediatrics 2008 January
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.
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