Inheritance of Factor VII and Protein S Deficiency Together with Factor V Leiden Mutation

Abstract

Yard. Doc. Dr. Zafer Bicakci, Kafkas Universitesi Tip Fakultesi Cocuk Hematolojisi Kars Turkiye, Tel. 0532 513 72 71 Email. zaferbicakcib@yahoo.com.tr Gelis Tarihi: 13.02.2015 • Kabul Tarihi: 18.04.2016 ABSTRACT Homozygous or heterozygous mutations of factor V Leiden (FV Leiden) and the thrombophilic factors like protein S deficiency are associated with venous or arterial thrombosis. In these patients, thrombosis may be seen even in the presence of coexistent congenital disorders of bleeding. Factor VII (FVII) deficiency is a rare autosomal recessive disorder of blood coagulation. When FVII deficiency occurs in combination with thrombophilic mutations, the symptoms of hemorrhagic diathesis are alleviated, like in other inherited hemorrhagic disorders. Herein, a 5-year-old and a 7-yearold, an asymptomatic sister and brother who respectively had 2 (FV Leiden mutation and protein S deficiency) and 1 (FV Leiden mutation) thrombophilic factors coexistent with FVII deficiency, are presented. The levels of FVII were 36% (N: 55%-116%) in the sister and 38% (N: 52%-120%) in the brother. FV Leiden mutation was homozygous and heterozygous in the sister and the brother, respectively. The protein S activity was 47% (N: 54%-118%) in the sister and normal in the brother. Familial work-up revealed FV Leiden mutation (heterozygous) in both parents and protein S deficiency in the mother [51% (N: 55%-160%)].