Article
Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications.
Clinica chimica acta; international journal of clinical chemistry - 1 Sept 2016
Amri Yessine, Kallel Choumous, Becheur Mariem, Dabboubi Rym, Elloumi Moez, Belaaj Hatem, Kammoun Sami, Messaoud Taieb, de Moerloose Philippe, Toumi Nour El Houda
Abstract excerpt
BACKGROUND: Congenital disorders of fibrinogen are rare diseases resulting in the complete absence (afibrinogenemia), reduced concentration (hypofibrinogenemia) or altered function of circulating fibrinogen (dysfibrinogenemia). A combination of two different fibrinogen abnormalities with a significant functional and secretion defect (hypodysfibrinogenemia) reported in Tunisian family members, was investigated in...
Topics
- Afibrinogenemia
- DNA Mutational Analysis
- Family Health
- Female
- Fibrinogen
- Fibrinogens, Abnormal
- Genotype
- Hemorrhage
- Humans
- Middle Aged
- Mutation, Missense
- Pedigree
- Thrombosis