Fibrinogen Barcelona II: A New Case of Aα 16 Arg → His Substitution

Autor: Borrell, M., Vila, Ll., Solá, J., Coll, I., Fontcuberta, J.
Zdroj: Haemostasis; January 1990, Vol. 20 Issue: 1 p1-7, 7p
Abstrakt: We describe a new congenital dysfibrinogenemia: fibrinogen Barcelona II in 8 members of a family with no major bleeding or thrombotic tendency. Incubation of this fibrinogen with thrombin at low concentration releases half of the expected normal fibrinopeptide A (FPA) and with some delay it releases an abnormal FPA. Abnormal FPA was purified and sequenced and showed a change in the normal amino acid sequence: arginine in position 16 has been substituted by a histidine. This is another case of dysfibrinogenemia in which Aα 16 Arg → His has been identified as the cause of abnormal behavior of the fibrinogen molecule.
Databáze: Supplemental Index