Fibrinogen Petoskey-1 has also been called fibrinogen Amiens-1, Amiens-2, Bergamo-3, Bern-2, Bicetre-1, Birmingham-1, Chapel Hill-2, Clermont-Ferrand-1, Giessen-1, Leitchfield, Long Beach-1, Louisville-1, Manchester-1, Paris-6, Petoskey-1, Seattle-2, Sheffield-2, Sydney-1, Sydney-2, and White Marsh-1.
In fibrinogen Petoskey (named for Petoskey, Michigan, the site of the hospital where the blood samples were collected), Higgins and Shafer (1981) detected replacement of arg-A(alpha)16 by a histidyl residue (R16H). In an abnormal fibrinogen associated with excessive postpartum bleeding and called fibrinogen White Marsh for the Virginia town of the patient's residence, Qureshi et al. (1983) also found the R16H mutation in the alpha chain. Carrell et al. (1983) gave the name fibrinogen Chapel Hill to a fibrinogen variant associated with thrombotic disease. Fibrinogen Manchester also exhibits the R16H mutation. Southan et al. (1985) found that platelet fibrinogen expresses the heterozygous R16H phenotype, thus supporting the view that the A-alpha chains of platelet and plasma fibrinogen are produced by a single genetic locus. Alving and Henschen (1987) reported that a patient homozygous for fibrinogen Giessen I had a substitution of histidine for arginine at position 16. Although this patient had had excessive postpartum bleeding, she had normal hemostasis throughout several minor surgical procedures and during hysterectomy. Reber et al. (1987) described 2 fibrinogen variants in which there was a substitution for arginine-16 in the alpha chain by histidine in one and by cysteine in the other; these were designated fibrinogen Bergamo III and fibrinogen Torino (134820.0003), respectively. See also Galanakis et al. (1983), Ebert et al. (1986), and Siebenlist et al. (1988).
According to Galanakis (1993), the R16H mutation had been identified in 22 unrelated families, making it the most frequent form of dysfibrinogenemia. Together with R16C, it represented the majority of the mutations characterized, 37 out of 63.
