Anemia Research Today is a free monthly online journal that collates and summarizes the latest research about Anemia, including details on symptoms, diagnosis, diet, treatment, causes.

Natural history of recessive inheritance of DMT1 mutations.

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

Department of Biochemistry and Medical Biotechnologies, University of Federico II and CEINGE Advanced Biotechnologies, Naples, Italy. iolascon@ceinge.unina.it

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.

Published 24 December 2007 in J Pediatr, 152(1): 136-9.
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