Ringed sideroblasts in β‐thalassemia. Issue 5 (3rd November 2016)

• Record Type: Journal Article
• Authors: Cattivelli, Kim; Campagna, Dean R.; Schmitz‐Abe, Klaus; Heeney, Matthew M.; Yaish, Hassan M.; Caruso Brown, Amy E.; Kearney, Susan; Walkovich, Kelly; Markianos, Kyriacos; Fleming, Mark D.; Neufeld, Ellis J.
• Is Part Of: Pediatric blood & cancer. Volume 64:Issue 5(2017)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2016-11-03
• Subjects: ringed sideroblasts -- sideroblastic anemia -- thalassemia; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.26324
• Languages: English
• ISSNs: 1545-5009

Abstract

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.