Ringed sideroblasts in β‐thalassemia |
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| Authors: | Kim Cattivelli Dean R. Campagna Klaus Schmitz‐Abe Matthew M. Heeney Hassan M. Yaish Amy E. Caruso Brown Susan Kearney Kelly Walkovich Kyriacos Markianos Mark D. Fleming Ellis J. Neufeld |
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| Affiliation: | 1. Pediatrics Clinic, University of Brescia, Spedali Civili di Brescia, Italy;2. Dana‐Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts;3. Department of Pathology, Boston Children's Hospital, Boston, Massachusetts;4. Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;5. Division of Hematology/Oncology, Department of Pediatrics, Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah;6. Division of Pediatric Hematology/Oncology, Department of Pediatrics, Upstate Medical University, Syracuse, New York;7. Division of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, University of Minnesota, Minneapolis, Minnesota;8. Division of Pediatric Hematology/Oncology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan;9. Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts |
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| Abstract: | Symptomatic β‐thalassemia is one of the globally most common inherited disorders. The initial clinical presentation is variable. Although common hematological analyses are typically sufficient to diagnose the disease, sometimes the diagnosis can be more challenging. We describe a series of patients with β‐thalassemia whose diagnosis was delayed, required bone marrow examination in one affected member of each family, and revealed ringed sideroblasts, highlighting the association of this morphological finding with these disorders. Thus, in the absence of characteristic congenital sideroblastic mutations or causes of acquired sideroblastic anemia, the presence of ringed sideroblasts should raise the suspicion of β‐thalassemia. |
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| Keywords: | ringed sideroblasts sideroblastic anemia thalassemia |
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