X-linked sideroblastic anemia in females

X-linked sideroblastic anemia (XLSA) in carrier females of ALAS2 mutations is not uncommon. We describe unique features and genotype/phenotype correlations in XLSA females and evaluate the contributions of X-chromosome skewing and clonal hematopoiesis, emphasizing the importance of distinguishing it from myelodysplastic syndromes with ring sideroblasts.