| Literature DB >> 27808451 |
Kim Cattivelli1,2, Dean R Campagna3, Klaus Schmitz-Abe4, Matthew M Heeney2, Hassan M Yaish5, Amy E Caruso Brown6, Susan Kearney7, Kelly Walkovich8, Kyriacos Markianos3,9, Mark D Fleming3, Ellis J Neufeld2.
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.Entities:
Keywords: ringed sideroblasts; sideroblastic anemia; thalassemia
Mesh:
Year: 2016 PMID: 27808451 PMCID: PMC5697724 DOI: 10.1002/pbc.26324
Source DB: PubMed Journal: Pediatr Blood Cancer ISSN: 1545-5009 Impact factor: 3.167