Antihaemophilic factor deficiency, capillary defect of von Willebrand type, and idiopathic thrombocytopenia occurring in one family.
Thrombocytopenia of the type found in idiopathic thrombocytopenic purpura is described in a family with a deficiency of antihaemophilic factor, and a capillary abnormality. The propositus (father) has thrombocytopenia and abnormal platelet morphology, together with a plasma deficiency of antihaemophilic factor, but normal capillaries. His two daughters each are deficient in antihaemophilic factor with normal platelets but abnormal capillaries.
D001780:Blood Coagulation Tests; D001792:Blood Platelets; D002196:Capillaries / Q000002:abnormalities; D005169:Factor VIII; D006467:Hemophilia A / Q000235:genetics*; D006474:Hemorrhagic Disorders / Q000235:genetics*; D006801:Humans; D016553:Purpura, Thrombocytopenic, Idiopathic; D013921:Thrombocytopenia; D054079:Vascular Malformations; D014842:von Willebrand Diseases
C078147:F8 protein, human; D005169:Factor VIII
HEMOPHILIA/genetics; HEMORRHAGIC DIATHESIS/genetics