Diamond Blackfan syndrome: clinical experience in 20 patients (1968-1998)

Abstract

Diamond Blackfan syndrome is an uncommon cause of anaemia in newborns and infants. We analyzed the clinical features and laboratory results of 20 patients, followed over a period of 30 years. We found that in 85% of cases the diagnosis was made in the first year, and the majority were female. 45% of patients had low weights for date at birth. The most important characteristic in the physical examination, apart from pallor, was short stature, in most cases there were no other physical abnormalities. 100% registered haemoglobin levels below normal, macrocytosis and reticulocytopenia, without affecting other haematological series. 85% of cases had a positive response to corticosteroids. Of the 3 non-responders 2 died and 1 survived with a dependence on red cell transfusions and secondary iron overload, as a lack of donors made a bone marrow transplant impossible. In this group transplant should be considered as the most appropriate treatment as other alternatives have had little success.