Fletcher factor deficiency--detection of a severe case in a population survey.
The first case of Fletcher factor deficiency from the African continent is described. This was the only case of symptomatic Fletcher factor deficiency detected in a total population survey of 40,522 persons. This patient differs from other reported cases in that the child had symptoms of severe bleeding defect such as recurrent haemarthrosis and haematoma. The clinical features appear to improve with age. Both the PTT 'time course' and cold-induced EACA acceleration of the thromboplastin time are useful diagnostic tests for detecting homozygous patients. Our results confirm an earlier report that the EACA test is a sensitive test for detecting heterozygotes.
D001778:Blood Coagulation Disorders / Q000175:diagnosis / Q000453:epidemiology; D006395:Hemarthrosis / Q000175:diagnosis; D006406:Hematoma / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007610:Kallikreins; D008297:Male; D008403:Mass Screening; D009549:Nigeria; D011288:Prekallikrein
D011288:Prekallikrein; D007610:Kallikreins