Abstract
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.
Highlights
A 14-month-old boy was referred to our hospital for evaluation of severe anemia
Because macrocytosis of Diamond– Blackfan anemia (DBA) is masked by microcytosis of b-thalassemia trait, the diagnosis of DBA co-existing with b-thalassemia trait might be challenging
Of these laboratory investigations, the diagnosis of DBA co-existing with b-thalassemia trait was established and the patient was treated with prednisolone
Summary
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 disease is characterized by a moderate to severe normochromic, usually macrocytic anemia [1,2,3]. The co-existence of b-thalassemia with other congenital disorders would not be surprising in Turkish population. Patients with b-thalassemia trait have reduced MCV and increased HbA2, whereas patients with DBA typically have a high MCV [1,4,5].
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