Diamond-Blackfan anemia: long-term follow-up of six cases / 소아과

ABSTRACT

PURPOSE: Diamond-Blackfan anemia (DBA) is a rare heterogeneous genetic disorder of infancy and early childhood. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red cell transfusions are the mainstays of therapy. We describe our experience of 6 cases of DBA that were encountered over a period of 16 years. METHODS: Medical records of 6 patients diagnosed to have DBA and admitted to the Chonnam National University Hospital between 1992 and 2008 were retrospectively reviewed. RESULTS: Three patients were males. The age at diagnosis ranged from 3 to 18 months (median, 5.5 months). Heart defects were observed in 4, polydactyly in 2, and strabismus in 1 patient. The median number of transfusions was 3 (range, 2 -8). All patients responded to initial treatment with steroids and had a hemoglobin level > or =9 g/dL with a median of 12.5 days (range, 7-22 days). Three patients are currently not receiving steroid therapy. A minimum dose of oral prednisolone ( or =9 mg/dL in 3 cases. Red cell transfusion was infrequently required in 1 patient. In the median follow-up of 14 years, there was no development of malignancy. No significant side effects of steroids were found, except for short stature in 2. CONCLUSION: The majority of DBA patients achieved complete response and under maintenance therapy with low dose of steroids. Close observation is needed to monitor steroid side effects, cardiac function, and development of malignancy. A nation-wide survey is necessary to further characterize this rare disease in Korean children.