Abstract • 99

In cooperation with paediatric haematologists from the Czech Republic we investigated 25 patients with chronic hypoplastic anaemia. Only 22 patients fulfilled the diagnostic criteria for Diamond-Blackfan anaemia (DBA). The other patients were diagnosed with chronic parvovirus B 19 infection(1), Fanconi anaemia(1), transient erythroblastopenia (1). From this data the prevalence of DBA in our country stands at 2/ million people. In the group of DBA patients there are 11 boys and 11 girls from the age of 4 months to 28 years. We identified 4 patients (18,1%) with hypotrophy at birth and 3(14%) premature births. Average birth weight of these boys and girls was significantly lower than in mature healthy newborns. We did not confirmed increased frequency of miscarriages. In 9(40,8%) patients we described physical anomalies. Height of 11(56%) children is under the 3rd percentile for age. HbF level was increased in 15/19 patients, and the i antigen expression was found in 14/19 patients. Erythropoetin level was normal only in two patients in remission, all other patients have a high level of serum erythropoietin (31-4300 MU/I, median 1032). ADA levels were normal in all transfusion-dependent patients and in two corticoid-dependent patients. All patients in remission have an increased ADA level.

There are 3 families with more than one case of DBA in the registry, two families with dominant and one with an evident recessive mode of inheritance. In this family two sisters are suffering from DBA, one with a severe form of the disease, she is transfusion- dependent, and the other one is in remission from the disease for the last ten years. Their parents have normal MCV, HbF, Epo and ADA levels.

Thirteen patients (59%) are being treated with corticosteroids, 5 patients(22,7%) are transfusion dependent, 4 (18%) patients are in remission. One patient with DBA died at the age of 15 years from dilatative cardiomyopathy due to hemosiderosis. One girl had a favourable outcome after BMT.

We would like to join the European DBA register and offer our data for further research.