The U.K. Diamond-Blackfan Anaemia (DBA) Registry was established with the aim of providing a representative database for studies on the aetiology. pathophysiology and treatment of DBA.
We have analysed retrospective data from 80 cases (33 male, 47 female) born in the U.K. in a 20-year period (1975-94). representing an annual incidence of 5 per million live births.
Ten children from seven families had an apparently familial disorder. 13%, were anaemic at birth, and 72.5% had presented by the age of 3 months. 67%, had macrocytosis at presentation. 72% responded initially to steroids, and at the time of study 61% were transfusion-independent (45% steroid-dependent) and 39% required regular transfusions.
Unequivocal physical anomalies, predominantly craniofacial. were present in 37%, and were more likely in boys (52%) than girls (25%). 18% had thumb abnormalities.
Height was below the third centile for age in 28%, and 31% had neither short stature nor physical anomalies.
Four children without physical abnormalities had normal red cell indices, and achieved steroid-independent remission, suggesting transient erythroblastopenia of childhood rather than DBA.
The birth month distribution of children with sporadic DBA and craniofacial dysmorphism showed a possible seasonality, consistent with a viral aetiology.
Mots-clés Pascal : Anémie hypoplasique Blackfan Diamond, Homme, Symptomatologie, Incidence, Epidémiologie, Pronostic, Corticostéroïde, Chimiothérapie, Efficacité traitement, Royaume Uni, Europe, Etude cohorte, Hémopathie, Maladie congénitale
Mots-clés Pascal anglais : Blackfan Diamond disease, Human, Symptomatology, Incidence, Epidemiology, Prognosis, Corticosteroid, Chemotherapy, Treatment efficiency, United Kingdom, Europe, Cohort study, Hemopathy, Congenital disease
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Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0429466
Code Inist : 002B19A01. Création : 10/04/1997.