X-linked sideroblastic anemia in females
Abstract
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.
Article Details
Authors (8)
Sarah Ducamp
1Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA
Dean R. Campagna
1Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA
Anoop K. Sendamarai
1Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA
Paul J. Schmidt
1Department of Pathology, Boston Children’s Hospital and Harvard Medical School, Boston, MA
Harrison K. Tsai
4Department of Pathology, Boston Children’s Hospital, Boston, MA
Matthew M. Heeney
Dana–Farber/Boston Children’s Cancer and Blood Disorders Center, Boston
Sylvia S. Bottomley
3Department of Medicine, University of Oklahoma College of Medicine, Oklahoma City, OK
Mark D. Fleming