Oorerflike faktor V gebrek (Parahemofilie) : 'n gevalbespreking
Date
1974
Authors
Brink S.
Journal Title
Journal ISSN
Volume Title
Publisher
HMPG
Abstract
A white boy and his family were investigated for a haemorrhagic diathesis. Both he and his sister, a primipara between 26 and 28 wk pregnant, in May 1973 had a total lack of factor V, demonstrated an abnormal partial thromboplastin time and a prolonged prothrombin index with normal prothrombin activity. Factor V assays were 10%. Clotting screening tests on the father and another son, who are both heterozygote carriers, were within normal limits, but the specific factor V assays were 48 and 39% respectively, which demonstrates the limitations of routine screening tests as opposed to specific factor V assays. The hereditary patterns in the two documented families in South Africa, and this family, are consistent with a partial dominancy.
Description
Article
The original publication is available at http://www.samj.org.za
The original publication is available at http://www.samj.org.za
Keywords
Blood clotting factor 5, Bleeding disorder -- Genetic aspects, Blood clotting factor 5 deficiency, Haemophilia -- Genetic aspects, Heterozygote
Citation
Brink, S. 1974. Oorerflike Faktor V Gebrek (Parahemofilie) : 'n gevalbespreking. South African Medical Journal, 16 March: 537-539.