A novel deletion in the fibrinogen beta chain (FGB) gene causing hypofibrinogenemia

Congenital fibrinogen disorders are rare inherited bleeding disorders characterized by bleeding or thrombosis. They can be divided into type I deficiencies or quantitative defects (afibrinogenemia and hypofibrinogenemia) which are defined when those with fibrinogen levels are below 1.5  g/L and type II deficiencies or qualitative defects (dysfibrinogenemia and hypodysfibrinogenemia) [1]. The estimated prevalence of afibrinogenemia is about 1:1,000,000. Although dysfibrinogenemia and hypofibrinogenemia are more frequent, their accurate prevalence remains unknown as most cases are asymptomatic [1,2].
Source: Thrombosis Research - Category: Hematology Authors: Tags: Letter to the Editors-in-Chief Source Type: research