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Article

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia

15 Nov 2021

Abstract excerpt

X-linked sideroblastic anemia (XLSA) is associated with mutations in the erythroid-specific δ-aminolevulinic acid synthase (ALAS2) gene. Treatment of XLSA is mainly supportive, except in patients who are pyridoxine responsive. Female XLSA often represents a late onset of severe anemia, mostly related to the acquired skewing of X chromosome inactivation. In this study, we successfully generated active wild-type...

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PMID: 34781359
DOI: 10.1182/bloodadvances.2021005664

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