Ringed sideroblasts in β-thalassemia.
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.
Pediatrics Clinic, University of Brescia, Spedali Civili di Brescia, Italy.|Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts.
Kim
K
Cattivelli
Department of Pathology, Boston Children's Hospital, Boston, Massachusetts.
Dean R
DR
Campagna
Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Klaus
K
Schmitz-Abe
Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts.
Matthew M
MM
Heeney
Division of Hematology/Oncology, Department of Pediatrics, Primary Children's Hospital, University of Utah School of Medicine, Salt Lake City, Utah.
Hassan M
HM
Yaish
Division of Pediatric Hematology/Oncology, Department of Pediatrics, Upstate Medical University, Syracuse, New York.
Amy E
AE
Caruso Brown
Division of Pediatric Hematology, Oncology, Blood and Marrow Transplantation, University of Minnesota, Minneapolis, Minnesota.
Susan
S
Kearney
Division of Pediatric Hematology/Oncology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan.
Kelly
K
Walkovich
Department of Pathology, Boston Children's Hospital, Boston, Massachusetts.|Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Kyriacos
K
Markianos
Department of Pathology, Boston Children's Hospital, Boston, Massachusetts.
Mark D
MD
Fleming
Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts.
Ellis J
EJ
Neufeld
D000293:Adolescent; D000328:Adult; D000756:Anemia, Sideroblastic / Q000175:diagnosis / Q000473:pathology*; D001854:Bone Marrow Cells / Q000166:cytology / Q000473:pathology*; D001856:Bone Marrow Examination; D002648:Child; D004900:Erythroblasts / Q000166:cytology / Q000473:pathology*; D004913:Erythrocytes, Abnormal; D005260:Female; D006402:Hematologic Diseases / Q000150:complications; D006801:Humans; D007223:Infant; D008297:Male; D017086:beta-Thalassemia / Q000175:diagnosis / Q000473:pathology*
ringed sideroblasts; sideroblastic anemia; thalassemia