Clinical and Hematologic Manifestations in Patients with Diamond-Blackfan Anemia

Diamond-Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that usually occurs symptomatic in early infancy. The purpose of this study was to assess the nationwide experiences of DBA that were encountered over a period of 20 years as a part of further molecular analyses.

Medical records of 56 patients diagnosed to have DBA were reviewed retrospectively from Nov. 1984 to July 31, 2010. Fifteen clinics including 13 university hospitals have been participated.

Male to female ratio was 1.67:1 (males 35 cases, females 21). The median age of diagnosis was 4 months (range birth to 52 months of age), with the diagnosis of 74.1% before 1 year of age. From 2000 to 2009, 33 cases with DBA were registered, which showed the incidence of 6.6 cases per million. Excluding growth retardation, 21 cases (38.2%) showed congenital defects: thumb deformities (8 cases), ptosis (5), coarctation of aorta (5), ventricular septal defect (4), strabismus (3), cleft palate (2), mitral valve prolapsed (2). The mean hemoglobin (Hb) concentration was 5.1±1.9 g/dL, and median, 5.2 g/dL. The mean MCV was 93.4±11.6 fL, mean HbF 7.7±11.3%, mean reticulocytes 19,700/mm³ and mean adenosine deaminase 21.3. The mean cellularity of bone marrow was 75%, with the ME ratio of 20.4:1. Among 47 patients who had been treated with steroids, 23 patients (48.9%) did not need further steroids after remission. The mean duration of steroid use was 7 years and 2 months (maximum 22 years). Among 28 cases who received steroid, 9 patients had been controlled with the oral steroid of 5 mg or less per day. Eight patients with DBA that received hematopoietic transplantation have survived. Cancers developed in 2 cases (3.6%).

The incidence of DBA is similar with the data already published, but male predilection in our study. Although all patients responded to initial treatment with steroids, about a half needed further steroids after remission. It is necessary to collect the further data including management pathways from nationwide DBA registries, with the molecular analyses.

No relevant conflicts of interest to declare.