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X-linked sideroblastic anemia in females
Sarah Ducamp1, Dean R Campagna1, Anoop K Sendamarai1
1Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA.
Abstract:
X-linked sideroblastic anemia (XLSA) in female carriers of 5-aminolevulinic acid synthase 2 mutations is not uncommon. We describe unique features and genotype/phenotype correlations in females with XLSA and evaluate the contributions of X-chromosome skewing and clonal hematopoiesis, emphasizing the importance of distinguishing it from myelodysplastic syndromes with ring sideroblasts.
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