title: Diagnostic symptoms of severe and moderate haemophilia A and B. A survey of 140 cases.
abstract: With a view to the characterisation of presenting symptoms, a survey was made of 140 boys diagnosed as having haemophilia A or B, severe or moderate form, in Sweden during the years 1960-1987. Mean age at diagnosis was nine months for the severe cases and 22 months for the moderate cases. Although the heredity was known in 59/140 cases, 35 had had bleeding episodes before diagnosis had been established, thus emphasising the importance of genetic information and carrier identification in haemophilia families. Of the presenting symptoms, subcutaneous bleedings constituted 41% while joint and muscle bleedings were uncommon; 16% were bleedings in conjunction with puncture of vessels, injections or surgery. Fourteen percent had anaemia and received blood-transfusion at diagnosis; 9% were diagnosed post-neonatally but 20% had shown abnormal bleeding tendency already in the neonatal period; seven boys (5%) had intracranial haemorrhages, five of them neonatally. A thorough family history and an extensive investigation of bleedings in the neonatal period should make early diagnosis possible.
authors.affiliation: Department of Paediatrics, University of Lund, Malmö General Hospital, Malmö, Sweden.
authors.forename: R
authors.initials: R
authors.lastname: Ljung
authors.forename: P
authors.initials: P
authors.lastname: Petrini
authors.forename: I M
authors.initials: IM
authors.lastname: Nilsson
mesh_terms: D006467:Hemophilia A / Q000175:diagnosis*; D002836:Hemophilia B / Q000175:diagnosis*; D006470:Hemorrhage / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male