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Case Reports
. 2025 Apr 3;145(14):1583-1587.
doi: 10.1182/blood.2024024475.

X-linked sideroblastic anemia in females

Sarah Ducamp  1 , Dean R Campagna  1 , Anoop K Sendamarai  1 , Paul J Schmidt  1 , Harrison K Tsai  1 , Matthew M Heeney  2 , Sylvia S Bottomley  3 , Mark D Fleming  1
Affiliations
Case Reports

X-linked sideroblastic anemia in females

Sarah Ducamp et al. Blood. .

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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