Summary of γ-Dysfibrinogens
| Mutation . | Name . | Sex/ Age . | Ca2+ Binding . | γ-γ FXIIIaCrosslinking . | Hetero/ homozygous . | Clinical Symptoms (no. of episodes) . | Relative(s) . | References . | |
|---|---|---|---|---|---|---|---|---|---|
| Fibrin . | fbg . | ||||||||
| G268E | Kurashiki I | M/58 | N | A | HM | ASYMPT | 101 | ||
| R275C | Baltimore IV | M/56 | N | HT | ASYMPT | 116, 117 | |||
| Bologna I | F/20 | THROMB | 2 | 84 | |||||
| Cedar Rapids I | HT | THROMB(2)-150 | 2-151 | 122 | |||||
| Milano V | F/51 | N | HT | ASYMPT | 119,199 | ||||
| Morioka I | N | HT | ASYMPT | 115 | |||||
| Osaka II | M/48 | N | HT | ASYMPT | 113 | ||||
| Tochigi I | M/51 | N | HT | ASYMPT | 88, 114 | ||||
| Tokyo II | F/39 | N | HT | ASYMPT | 100, 118 | ||||
| Villajoyosa I | F/27 | HT | ASYMPT | 120 | |||||
| R275H | Barcelona III | M/71 | HT | THROMB(1) | 0 | 120 | |||
| Barcelona IV | M/28 | HT | ASYMPT | 120 | |||||
| Bergamo II | F | HT | THROMB(M) | 5 | 126 | ||||
| Claro I | F/42 | N | HT | ASYMPT-152 | 128, 199 | ||||
| Essen I | M | HT | ASYMPT | 126 | |||||
| Haifa I | F/30 | N | N | HT | THROMB(≥2) | 1 | 95, 130, 131 | ||
| Osaka III | F/38 | N | N | HT | ASYMPT | 127 | |||
| Perugia I | M/2 | HT | ASYMPT | 126 | |||||
| Saga I | F/16 | N | HT | ASYMPT | 129 | ||||
| G292V | Baltimore I | F/29 | N | HT | THROMB(M)-153 | 133-137 | |||
| N308I | Baltimore III | F/30 | N | HT | ASYMPT | 140, 141 | |||
| N308K | Bicêtre II | M/40 | THROMB(≥2) | 0 | 144 | ||||
| Kyoto I | M/45 | N | N | HT | ASYMPT | 142, 143 | |||
| Matsumoto II | F/49 | HT | BLEED-155 | 1 | 145 | ||||
| M310T | Asahi I | M/33 | A | A | HT | BLEED(M) | 146, 147 | ||
| D318G | Giessen IV | F/18 | THROMB-150,-153¶ | 0 | 84 | ||||
| ΔN319,D320 | Vlissingen I | F/23 | A | HT | THROMB | ≥6 | 152 | ||
| Q329R | Nagoya I | F/43 | N | HT | ASYMPT | 153-155 | |||
| D330V | Milano I | N | N | HT | ASYMPT | 156, 199 | |||
| D330Y | Kyoto III | F/50 | HT | ASYMPT | 157 | ||||
| N337K | Bern I | F/24 | N | HT | ASYMPT | 158, 159, 199 | |||
| ∇γ350 | Paris I | A | A | 160-165 | |||||
| S358C | Milano VII | F/21 | N | HT | ASYMPT | 166, 199 | |||
| D364H | Matsumoto I | M/1 | HT | ASYMPT | 167 | ||||
| D364 V | Melun I | F/40 | HT | THROMB(M) | 8 | 168 | |||
| R375G | Osaka V | F/44 | A | HT | ASYMPT | 172 | |||
| K380N | Kaiserslautern I | N | HM | THROMB | 177 | ||||
| Mutation . | Name . | Sex/ Age . | Ca2+ Binding . | γ-γ FXIIIaCrosslinking . | Hetero/ homozygous . | Clinical Symptoms (no. of episodes) . | Relative(s) . | References . | |
|---|---|---|---|---|---|---|---|---|---|
| Fibrin . | fbg . | ||||||||
| G268E | Kurashiki I | M/58 | N | A | HM | ASYMPT | 101 | ||
| R275C | Baltimore IV | M/56 | N | HT | ASYMPT | 116, 117 | |||
| Bologna I | F/20 | THROMB | 2 | 84 | |||||
| Cedar Rapids I | HT | THROMB(2)-150 | 2-151 | 122 | |||||
| Milano V | F/51 | N | HT | ASYMPT | 119,199 | ||||
| Morioka I | N | HT | ASYMPT | 115 | |||||
| Osaka II | M/48 | N | HT | ASYMPT | 113 | ||||
| Tochigi I | M/51 | N | HT | ASYMPT | 88, 114 | ||||
| Tokyo II | F/39 | N | HT | ASYMPT | 100, 118 | ||||
| Villajoyosa I | F/27 | HT | ASYMPT | 120 | |||||
| R275H | Barcelona III | M/71 | HT | THROMB(1) | 0 | 120 | |||
| Barcelona IV | M/28 | HT | ASYMPT | 120 | |||||
| Bergamo II | F | HT | THROMB(M) | 5 | 126 | ||||
| Claro I | F/42 | N | HT | ASYMPT-152 | 128, 199 | ||||
| Essen I | M | HT | ASYMPT | 126 | |||||
| Haifa I | F/30 | N | N | HT | THROMB(≥2) | 1 | 95, 130, 131 | ||
| Osaka III | F/38 | N | N | HT | ASYMPT | 127 | |||
| Perugia I | M/2 | HT | ASYMPT | 126 | |||||
| Saga I | F/16 | N | HT | ASYMPT | 129 | ||||
| G292V | Baltimore I | F/29 | N | HT | THROMB(M)-153 | 133-137 | |||
| N308I | Baltimore III | F/30 | N | HT | ASYMPT | 140, 141 | |||
| N308K | Bicêtre II | M/40 | THROMB(≥2) | 0 | 144 | ||||
| Kyoto I | M/45 | N | N | HT | ASYMPT | 142, 143 | |||
| Matsumoto II | F/49 | HT | BLEED-155 | 1 | 145 | ||||
| M310T | Asahi I | M/33 | A | A | HT | BLEED(M) | 146, 147 | ||
| D318G | Giessen IV | F/18 | THROMB-150,-153¶ | 0 | 84 | ||||
| ΔN319,D320 | Vlissingen I | F/23 | A | HT | THROMB | ≥6 | 152 | ||
| Q329R | Nagoya I | F/43 | N | HT | ASYMPT | 153-155 | |||
| D330V | Milano I | N | N | HT | ASYMPT | 156, 199 | |||
| D330Y | Kyoto III | F/50 | HT | ASYMPT | 157 | ||||
| N337K | Bern I | F/24 | N | HT | ASYMPT | 158, 159, 199 | |||
| ∇γ350 | Paris I | A | A | 160-165 | |||||
| S358C | Milano VII | F/21 | N | HT | ASYMPT | 166, 199 | |||
| D364H | Matsumoto I | M/1 | HT | ASYMPT | 167 | ||||
| D364 V | Melun I | F/40 | HT | THROMB(M) | 8 | 168 | |||
| R375G | Osaka V | F/44 | A | HT | ASYMPT | 172 | |||
| K380N | Kaiserslautern I | N | HM | THROMB | 177 | ||||
All propositi were found to have impaired fibrin polymerization and normal fibrinopeptide release. The number of episodes is shown in parentheses, if reported. Relatives refers to the number of relatives showing clinical symptoms similar to those of the propositus (but not necessarily the dysfibrinogenemia). Blanks indicate that data were unavailable or not found.
Abbreviations: M, male; F, female; N, normal; A, abnormal; fbg, fibrinogen; HT, heterozygous; HM, homozygous; ASYMPT, asymptomatic; THROMB, thrombosis; BLEED, bleeding; M, multiple.
The propositus was also found to be heterozygous for the factor V Leiden defect.
All affected relatives were heterozygous for both the dysfibrinogenemia and the factor V Leiden defect.
Had two spontaneous abortions.
Also suffered from mild bleeding.
Easy bruising and postpartum bleeding.
¶Personal communication from Drs F. Haverkate and R.M. Bertina, December 1997.