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Case Reports
. 2004 Oct;89(10):1261-3.

Onset of X-linked sideroblastic anemia in the fourth decade

  • PMID: 15477213
Case Reports

Onset of X-linked sideroblastic anemia in the fourth decade

Emília Cortesão et al. Haematologica. 2004 Oct.

Abstract

We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.

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