Mutations identified in patients with factor XI deficiency in Southwestern France
| Family . | Patient . | Gender/Age . | Factor XI activity, U/dL . | Bleeding following hemostatic challenge . | Origin . | Genotype . | ||
|---|---|---|---|---|---|---|---|---|
| Challenge . | Coverage . | Bleeding . | ||||||
| I | 1 | F/50 | <1 | Breast surgery | None | None | Basque | Cys38Arg/Cys38Arg |
| II | 2 | M/22 | 40 | Herniorrhaphy | None | None | Basque | Cys38Arg/N |
| 3 | M/28 | 40 | None | — | — | — | Cys38Arg/N | |
| 4 | F/53 | 45 | None | — | — | — | Cys38Arg/N | |
| III | 5 | M/40 | 36 | Cervical disc surgery | None | Hematoma | Basque | Cys38Arg/N |
| IV | 6 | F/35 | 30 | None | — | — | Basque | Cys38Arg/N |
| V | 7 | M/61 | 34 | None | — | — | Basque | Cys38Arg/N |
| VI | 8 | F/51 | 40 | None | — | — | Basque | Cys38Arg/N |
| VII | 9 | F/34 | 18 | Delivery | None | Mild | Basque | Cys38Arg/N |
| VIII | 10 | F/22 | 2 | Open fracture | None | None | Basque | Cys38Arg/Tyr493His |
| 11 | F/22 | 1 | Dental extraction | None | None | — | Cys38Arg/Tyr493His | |
| IX | 12 | M/13 | <1 | Tonsillectomy | Plasma | None | Basque/Jewish | Cys237Tyr/Glu117Stop |
| 13 | M/10 | <1 | Testicular surgery | Plasma | None | — | Cys237Tyr/Glu117Stop | |
| X | 14 | M/17 | 48 | Appendectomy | None | None | Basque/non-Basque | Codon 285delG/N |
| XI | 15 | M/5 | 40 | Adenoidectomy | Tranexamic acid | None | Basque | IVS6 + 3A > G/N |
| XII | 16 | F/39 | 35 | None | — | — | Basque/non-Basque | Not detected |
| Family . | Patient . | Gender/Age . | Factor XI activity, U/dL . | Bleeding following hemostatic challenge . | Origin . | Genotype . | ||
|---|---|---|---|---|---|---|---|---|
| Challenge . | Coverage . | Bleeding . | ||||||
| I | 1 | F/50 | <1 | Breast surgery | None | None | Basque | Cys38Arg/Cys38Arg |
| II | 2 | M/22 | 40 | Herniorrhaphy | None | None | Basque | Cys38Arg/N |
| 3 | M/28 | 40 | None | — | — | — | Cys38Arg/N | |
| 4 | F/53 | 45 | None | — | — | — | Cys38Arg/N | |
| III | 5 | M/40 | 36 | Cervical disc surgery | None | Hematoma | Basque | Cys38Arg/N |
| IV | 6 | F/35 | 30 | None | — | — | Basque | Cys38Arg/N |
| V | 7 | M/61 | 34 | None | — | — | Basque | Cys38Arg/N |
| VI | 8 | F/51 | 40 | None | — | — | Basque | Cys38Arg/N |
| VII | 9 | F/34 | 18 | Delivery | None | Mild | Basque | Cys38Arg/N |
| VIII | 10 | F/22 | 2 | Open fracture | None | None | Basque | Cys38Arg/Tyr493His |
| 11 | F/22 | 1 | Dental extraction | None | None | — | Cys38Arg/Tyr493His | |
| IX | 12 | M/13 | <1 | Tonsillectomy | Plasma | None | Basque/Jewish | Cys237Tyr/Glu117Stop |
| 13 | M/10 | <1 | Testicular surgery | Plasma | None | — | Cys237Tyr/Glu117Stop | |
| X | 14 | M/17 | 48 | Appendectomy | None | None | Basque/non-Basque | Codon 285delG/N |
| XI | 15 | M/5 | 40 | Adenoidectomy | Tranexamic acid | None | Basque | IVS6 + 3A > G/N |
| XII | 16 | F/39 | 35 | None | — | — | Basque/non-Basque | Not detected |
N indicates normal genotype.