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Onset of X-linked sideroblastic anemia in the fourth decade

Emília Cortesão, Júlia Vidan, Janet Pereira

    Haematologica
    |October 13, 2004
    PubMed

    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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