Abstract

Background—The management of haemophilia has changed dramatically over the years and is constantly being improved. This study set out to discover if the diagnosis of haemophilia was being made early enough in those with no family history and looked at the different modes of presentation.

Method—A questionnaire was sent to all patients with haemophilia under the age of 16 who had no family history before diagnosis.

Results—There were 28 replies from 34 patients contacted (82% response rate). Three were excluded because of a known family history. The mean number of attendances to a doctor before a diagnosis was considered was 4.13 (median = 3, interquartile range = 2.5). The mean age of diagnosis was 29.52 months (median = 14, interquartile range = 20. Most presentations were to the accident and emergency department and to the general practitioner. The most common presenting feature was easy bruising.

Conclusion—There is a variable delay in diagnosis despite predictable presenting features.