Diamond-Blackfan anemia associated with beta-thalassemia trait.
A 14-month-old boy was referred to our hospital for evaluation of severe anemia. In the bone marrow aspiration smear, normal cellularity with severe erythroblastopenia (3%) was observed. The hemoglobin electrophoresis of the patient and his father were compatible with the beta-thalassemia trait. Because macrocytosis of Diamond-Blackfan anemia (DBA) is masked by microcytosis of beta-thalassemia trait, the diagnosis of DBA co-existing with beta-thalassemia trait might be challenging. We report herein a case of DBA co-existing with beta-thalassemia trait in a Turkish boy.
Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children's Hospital, Pediatric Hematology Unit, Sihhiye, Ankara, Turkey. betultavil@yahoo.com
Betül
B
Tavil
Mualla
M
Cetin
Bariş
B
Kuşkonmaz
Fatma
F
Gümrük
D000293:Adolescent; D029503:Anemia, Diamond-Blackfan / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D040641:Quantitative Trait Loci / Q000235:genetics; D017086:beta-Thalassemia / Q000150:complications* / Q000235:genetics / Q000473:pathology