Biochemical characterisation of the haemophilias on the Witwatersrand.
Blood samples obtained from patients on the Witwatersrand with haemophilia A, haemophilia B and von Willebrand disease were analysed. Factor activities were assayed by conventional methods. Immunoradiometric assay using labelled monoclonal anti-VIIIC:Ag was developed to assay factor VIIIC:Ag in haemophilia A. Factor IX:Ag levels were determined by a commercial ELISA kit. Multimer pattern analysis of von Willebrand factor was performed by agarose gel electrophoresis and Western blotting. In 43 patients haemophilia A was severe, in 8 it was moderate and in 2 it was mild. Factor VIIIC:Ag was undetected in 36 haemophiliacs (CRM-) while VIIIC:Ag was detected in levels exceeding or correlating with those of VIII:C in 17 cases (CRM+). Four severe, CRM- haemophiliacs were found to have inhibitors. An assay of IX:Ag in 6 severely and 2 moderately affected patients with haemophilia B revealed 6 to be CRM- while 2 were CRM+. Multimer pattern analysis was performed on 11 von Willebrand disease patients, of which 5 were type I, 5 were type II and 1 was type III. More informative techniques for the diagnosis and classification of haemophilia are now available. In addition, these results will assist in further molecular studies of these disorders.
van Wijk
M G
MG
Department of Haematology, School of Pathology of the South African Institute for Medical Research, Johannesburg.
Cohn
R
R
Hartman
E
E
Atkinson
P M
PM
D004587:Electrophoresis, Agar Gel; D004797:Enzyme-Linked Immunosorbent Assay; D005164:Factor IX / Q000032:analysis; D005169:Factor VIII / Q000032:analysis; D006467:Hemophilia A / Q000097:blood*; D002836:Hemophilia B / Q000097:blood*; D006801:Humans; D011863:Radioimmunoassay; D013019:South Africa; D014842:von Willebrand Diseases / Q000097:blood*; D014841:von Willebrand Factor / Q000032:analysis
D014841:von Willebrand Factor; D005169:Factor VIII; D005164:Factor IX