Haematologica
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Haematologica, Vol 89, Issue 10, 1261-1263
Copyright © 2004 by Ferrata Storti Foundation

Case Reports

Onset of X-linked sideroblastic anemia in the fourth decade

E Cortesao, J Vidan, J Pereira, P Goncalves, ML Ribeiro, and G Tamagnini

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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Copyright © 2004 by the Ferrata Storti Foundation.