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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Article Information
Vol. 89 No. 10 (2004): October, 2004 : Case Reports
Published
2004-01-01
Published By
Ferrata Storti Foundation, Pavia, Italy
Print ISSN
0390-6078
Online ISSN
1592-8721
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How to Cite
1.
E Cortesao, J Vidan, J Pereira, P Goncalves, ML Ribeiro, G Tamagnini. Onset of X-linked sideroblastic anemia in the fourth decade. Haematologica 2004;89(10):1261-1263; https://doi.org/10.3324/%x.
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