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Article

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation

22 Feb 2015

Abstract excerpt

Macrocytic anemia with abnormal erythropoiesis is a common feature of megaloblastic anemias, congenital dyserythropoietic anemias, and myelodysplastic syndromes. Here, we characterized a family with multiple female individuals who have macrocytic anemia. The proband was noted to have dyserythropoiesis and iron overload. After an extensive diagnostic evaluation that did not provide insight into the cause of the...

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PMID: 25705881
DOI: 10.1172/jci78619

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X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutationPMID 25705881Read ↗

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