title: Fibrinogen Geneva, a new case of A alpha 16 Arg----Cys dysfibrinogenaemia.
abstract: A new congenital variant of fibrinogen, from which only half the normal amount of fibrinopeptide A can be released by thrombin, was found in three members of a family having no major bleeding or thrombotic tendency. Following carboxamidomethylation of the reduced fibrinogen chains, an abnormal peptide was cleaved by thrombin from the amino terminus of the A alpha-chain (A* alpha 1-19) and isolated by reversed phase high-performance liquid chromatography. Amino acid analysis indicated the presence of carboxymethyl cysteine in this A alpha-chain fragment which in normal fibrinogen is devoid of cysteine. We conclude that fibrinogen Geneva is another fibrinogen variant with the substitution A alpha 16 Arg----Cys.
authors: Central Haematology Laboratory, Inselspital, Bern, Switzerland.
authors: M
authors: M
authors: Furlan
authors: C
authors: C
authors: Bögli
authors: A
authors: A
authors: Hofer
authors: C A
authors: CA
authors: Bouvier
authors: P
authors: P
authors: de Moerloose
mesh_terms: D001780:Blood Coagulation Tests; D003545:Cysteine; D005260:Female; D015241:Fibrinogens, Abnormal / Q000235:genetics* / Q000302:isolation & purification; D005344:Fibrinopeptide A / Q000032:analysis / Q000302:isolation & purification*; D005345:Fibrinopeptide B / Q000032:analysis / Q000302:isolation & purification; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D013917:Thrombin / Q000494:pharmacology
chemical_list: D015241:Fibrinogens, Abnormal; C071488:fibrinogen Geneva; D005344:Fibrinopeptide A; D005345:Fibrinopeptide B; D013917:Thrombin; D003545:Cysteine