Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort

Br J Haematol. 1996 Sep;94(4):645-53. doi: 10.1046/j.1365-2141.1996.d01-1839.x.


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.

MeSH terms

  • Age of Onset
  • Cohort Studies
  • Fanconi Anemia / blood
  • Fanconi Anemia / epidemiology
  • Fanconi Anemia / genetics*
  • Female
  • Growth Disorders / complications
  • Humans
  • Incidence
  • Male
  • Remission, Spontaneous
  • Retrospective Studies
  • Seasons
  • Sex Factors
  • Steroids / therapeutic use
  • United Kingdom / epidemiology


  • Steroids