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.
J Pediatr. 2008 Jan;152(1):136-9. doi: 10.1016/j.jpeds.2007.08.041.
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.
二价金属离子转运体1（DMT1）缺乏症由于红系铁利用减少而导致小细胞低色素性贫血。贫血自出生时就存在。尽管肝脏有铁过载，但转铁蛋白饱和度高，血清铁蛋白轻度升高。在新生儿期观察到的小细胞低色素性贫血的鉴别诊断中必须考虑DMT1缺乏症。
