Studies in a case of Bernard-Soulier syndrome.
In two siblings, brother and sister, with a history of bleeding Bernard-Soulier syndrome was diagnosed: The stronger affected sister showed a high percentage of giant blood platelets, an abnormal platelet spreading test and a defect in ristocetin and bovine fibrinogen-induced platelet aggregation. In addition, the content of platelet ATP, ADP and AMP was increased. As leucocyte counts were consistently decreased in the more seriously affected anaemic sister, repeated cytochemical examinations of the haemopoietic cells were carried out, revealing maturational defects in the whole haemopoietic system. Therapy with tranexamic acid reduced bleeding in the sister and she has not been anaemic since.
D000227:Adenine Nucleotides / Q000097:blood; D000328:Adult; D001791:Blood Platelet Disorders / Q000175:diagnosis* / Q000503:physiopathology; D001792:Blood Platelets / Q000032:analysis / Q000473:pathology / Q000648:ultrastructure; D004920:Erythropoiesis; D005260:Female; D006474:Hemorrhagic Disorders / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008297:Male; D010974:Platelet Aggregation; D013577:Syndrome; D013921:Thrombocytopenia / Q000175:diagnosis / Q000503:physiopathology
D000227:Adenine Nucleotides