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We readwith great interest the topical article by deMoerloose et al1 in Seminars in Thrombosis and Hemostasis regarding congenital afibrinogenemia. Accordingly, we recently corresponded anovelmutation in an afibrinogenemicpatientwith a proposed new pathological molecular mechanism underlying afibrinogenemia.2Wehave named this novelmutation “fibrinogenMartin”, and nowwish to expand our intial report to also describefindingswith thehypofibrinogenemic kindreds of the index patient. Fibrinogen is a 340 kDa glycoprotein comprising pairs of three polypeptide chains termed Aα, Bβ, and γ. Fibrinogen has a trinodular structure with a central nodule (E-domain) that contains the N-terminus of each chain and two lateral globular domains (D-domains) that contain the C-terminus of Bβand γ-chains. The E-domain is linked to the two D-domains by a coiled-coil triple helix structure.3,4 The three genes encoding fibrinogen Bβ (FGB), Aα (FGA), and γ (FGG), ordered from centromere to telomere, are clustered in a region of 50 kb on human chromosome 4q28.1,4 Congenital afibrinogenemia is an autosomal recessive bleeding disorder, referring to the total absence of plasma fibrinogen asmeasured by an antigenic assay, and is caused by variations in these genes, and associated with homozygous or compound heterozygous mutations, while hypofibrinogenemia is usually linked with heterozygous mutations.5 Mutations of FGB are less common and of particular interest since the Bβ-chain is considered the rate-limiting factor in the hepatic production of the fibrinogen hexamer.6 The estimated prevalence of congenital afibrinogenemia is 1 in 1,000,000,1 and according to our present knowledge, in Slovakia is 1 in 5,000,000.7 We recently performed genetic analysis of FGA, FGB, and FGG as well as coagulation tests in a patient with congenital afibrinogenemia plus his immediate family (i.e., his parents and two older sisters). The patient with congenital

Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia