Table 2.
Name/Origin | Plasma Protein | Native Protein | Gene | Gene Status | Type | Haemorraghes | Numbers of Studied Family Member/Positive Numbers of Mutation | Numbers of Thrombotic Complications | Other Thrombophilic States | References |
---|---|---|---|---|---|---|---|---|---|---|
Fibrinogen Bβ Chain Mutations Associated with Thrombosis | ||||||||||
PARIS IX | Bβ(236) Tyr>Cys | p.Tyr266Cys | 5909A>G IVS7+1G>C |
Compound | Hypofib. | Yes | 2/1 | 2 | Not listed | [6] |
ALGERIAN | Bβ(269) Tyr>His | p.Tyr299His | c.895T>C | Homozyg. | Afib. | Yes | 1/1 | 1 | Heterozygous Factor V Leiden mutation | [48] |
NORTHERN ITALY | Bβ(277) Ala>Ser | p.Ala307Ser | c.919G>T | Homozyg. | Afib. | No | 3/1 | 3 | No other thrombophilic state | [67] |
MARTIN II | Bβ(338) Tyr>His | p.Tyr368His | c.1102T>C | Homozyg. | Hypofib. | No | 4/2 | 5 | No other thrombophilic state | [26] |
GENEVA | Bβ(17) Arg>Stop Bβ(414) Gly>Ser |
p.Arg47Stop p.Gly444Ser |
c.139C>T c.1330G>C |
Compound | Afib. | Yes | 4/2 | 2 | No other thrombophilic state | [68] |
MUMBAI | Bβ(434) Gly>Asp | p.Gly464Asp | c.G1391A | Homozyg. | Afib. | Yes | 1/1 | 1 | Heterozygous PAI 4G/5G polymorphism | [69] |
PORTUGUESE | Bβ(442) Gly>Val | p.Gly472Val | c.1415G>T | Homozyg. | Hypofib. | No | 1/1 | 5 | No other thrombophilic state | [48] |
Fibrinogen γ Chain Mutations Associated with Thrombosis | ||||||||||
COLUMBUS | γ(200) Gly>Val | p.Gly226Val | c.677G>T | Heterozyg. | Hypofib. | Yes | 8/2 | 2 | Heterozygous Factor V Leiden, MTHFR C677T mutations | [70] |
MARTIN III | γ(249) Glu>Stop | p.Glu275Stop | c.823G>T | Heterozyg. | Hypofib. | No | 1/1 | 3 | No other thrombophilic state | [5] |
DARLINGHURST | γ(253) Trp>Gly | p.Trp279Gly | c.835T>G | Homozyg. | Hypofib. | Yes | 2/1 | 2 | No other thrombophilic state | [71] |
SAINT GERMAIN II | γ(345) Asn>Ser | p.Asn371Ser | 7687A>G | Heterozyg. | Hypofib. | No | 3/1 | 2 | Heterozygous Factor V Leiden mutation, prothrombin G20210 mutation | [72] |
Afib, afibrinogenemia; Heterozyg, heterozygous; Heterozyg, heterozygous; Hypofibt, hypofibrinogenemia; PAI, plasminogen activator inhibitor-1.