Further studies on factor VII Padua defect: the report of the fourth homozygous patient from the same valley.
A new patient with factor VII Padua abnormality is presented. The proposita is an 11-year-old girl who showed a mild bleeding tendency and a laboratory pattern characterized by a prolonged prothrombin time corrected by normal serum, normal partial thromboplastin time and normal Thrombotest. Factor VII assay was 10% using rabbit brain thromboplastin and 100% of normal using ox brain thromboplastin. Factor VII cross-reaction material was normal. The parents were not consanguineous but both came from the same area and were found to be heterozygous for the abnormality. The discovery of the present patient, the fourth in three years, indicates that the defect might be more frequent than originally thought.
D001780:Blood Coagulation Tests; D002648:Child; D005168:Factor VII Deficiency / Q000175:diagnosis*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy; D010375:Pedigree