title: Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.
abstract: 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.
authors.affiliation: Division of Haematology, St George's Hospital Medical School, London.
authors.forename: S E
authors.initials: SE
authors.lastname: Ball
authors.forename: C P
authors.initials: CP
authors.lastname: McGuckin
authors.forename: G
authors.initials: G
authors.lastname: Jenkins
authors.forename: E C
authors.initials: EC
authors.lastname: Gordon-Smith
mesh_terms: D017668:Age of Onset; D015331:Cohort Studies; D005199:Fanconi Anemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D015994:Incidence; D008297:Male; D012075:Remission, Spontaneous; D012189:Retrospective Studies; D012621:Seasons; D012737:Sex Factors; D013256:Steroids / Q000627:therapeutic use; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D013256:Steroids