[Congenital hypoplastic anemia in The Netherlands (1963-1989)]

Congenital hypoplastic anemia (CHA; syn: Diamond-Blackfan syndrome) is a rare disorder with one of two patients a year in the Netherlands. To get a better understanding of this disorder in the Netherlands we conducted a national retrospective study over a 25-year period (1963 till 1989). The medical reports of 19 patients who fulfilled the diagnostic criteria for CHA were studied. Almost all patients were diagnosed during the first three months of life. Dysmaturity was found in 50% of the patients and in 25% physical anomalies were observed. In 17 patients the bone marrow showed a hypoplastic erythropoiesis, but in 2 patients erythropoiesis was quantitatively normal. All patients were treated with prednisone and 74% of them responded initially. Five of these patients (26%) had a complete remission and 4 of them (21%) are in remission on low dose prednisone maintenance-treatment. Remarkably one patient went only into remission at the age of 17 years. Nine patients (47%) are transfusion-dependent and one patient has a stable hemoglobin level of about 5.0 mmol/l without treatment. This study further shows that the chance of achieving a remission was positively correlated with an early start of prednisone treatment and negatively with the manifestation of symptoms on the first day of life.