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Onset of X-linked sideroblastic anemia in the fourth decade |
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| Authors: | Cortesão Emília Vidan Júlia Pereira Janet Gonçalves Paula Ribeiro Maria Letícia Tamagnini Gabriel |
| 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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