[Hereditary dysfibrinogenaemia. Study of a family (author's transl)].
This note studies fourteen members of the same family over three generations. Ten of them have biological dysfibrinogenaemia without haemorrhagic diathesis or thrombosis. The diagnostic is essentially based on the study of fibrin formation by thrombine time. On the other hand global coagulation tests are little or not at all disturbed and the rate of physiologically active fibrinogen is sometimes subnormal. The biological outline of the defect is superposable to the one of the majority of hereditary dysfibrinogenaemia cases actually published. The classical prevailing autosomal transmission is confirmed.
D000328:Adult; D001778:Blood Coagulation Disorders / Q000235:genetics* / Q000503:physiopathology; D001780:Blood Coagulation Tests; D005260:Female; D005337:Fibrin / Q000096:biosynthesis; D005340:Fibrinogen / Q000032:analysis*; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D013918:Thrombin Time
D005337:Fibrin; D005340:Fibrinogen
Les dysfibrinogénémies héréditaires. Rapport d'une étude familiale.