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.
Vol. 89 No. 10 (2004): October, 2004 : Case Reports
Ferrata Storti Foundation, Pavia, Italy
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