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Ringed sideroblasts in β‐thalassemia
Author(s) -
Cattivelli Kim,
Campagna Dean R.,
SchmitzAbe Klaus,
Heeney Matthew M.,
Yaish Hassan M.,
Caruso Brown Amy E.,
Kearney Susan,
Walkovich Kelly,
Markianos Kyriacos,
Fleming Mark D.,
Neufeld Ellis J.
Publication year - 2017
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26324
Subject(s) - medicine , thalassemia , sideroblastic anemia , presentation (obstetrics) , disease , pediatrics , pathology , bone marrow , radiology
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.