Article
A novel fibrinogen γ chain frameshift deletion (c.637delT) in a patient with hypodysfibrinogenemia associated with thrombosis.
Hamostaseologie - 1 Jan 2015
Ivaškevičius V, Thomas A, Biswas A, Ensikat H, Schmitt U, Horneff S, Pavlova A, Poetzsch B, Oldenburg J
Abstract excerpt
UNLABELLED: Inherited fibrinogen (FG) disorders are rare and result in quantitative or/and qualitative FG deficiency. While the majority of patients with clinically relevant FG deficiencies demonstrate a bleeding phenotype, a subset of patients are at increased risk of thrombosis. PATIENTS AND METHODS: We report a 54-years old man presenting with a thrombophilic phenotype characterized by two episodes of...
Topics
- Afibrinogenemia
- Fibrinogens, Abnormal
- Frameshift Mutation
- Gene Deletion
- Genetic Predisposition to Disease
- Humans
- Male
- Middle Aged
- Thrombosis