Clinical and laboratory findings for 6 F5F8D patients
| Patients . | Gender/age, y . | Clinical manifestations (bleeding score) . | FV:C (IU/dL)† . | FVIII:C (IU/dL)† . | Mutations . | |
|---|---|---|---|---|---|---|
| LMAN1 . | MCFD2 . | |||||
| P1 | F/27 | No bleeding diatheses (0) | 18.1 | 21.2 | c.439G>A, V147I‡ | |
| P2 | M/60 | Bleeding after dental extraction, gingival bleeding (3) | 12.3 | 18.8 | c.790dupA, T264Nfs*6‡ | |
| P3 | F/36 | Bleeding after dental extraction/surgery, gingival bleeding (7) | 11.3 | 13.9 | c.912dupA, E305Rfs*20 | |
| P4 | M/33 | Gingival bleeding (4) | 14.2 | 17.4 | c.949C>T, Q317* | |
| P5 | F/27 | Bleeding after dental extraction (3) | 12.9 | 16.0 | c.1150-2A>G‡ | |
| P6 | F/22 | Gingival bleeding, menorrhagia (4) | 6.6 | 8.1 | c.149+1G>C‡ | |
| Patients . | Gender/age, y . | Clinical manifestations (bleeding score) . | FV:C (IU/dL)† . | FVIII:C (IU/dL)† . | Mutations . | |
|---|---|---|---|---|---|---|
| LMAN1 . | MCFD2 . | |||||
| P1 | F/27 | No bleeding diatheses (0) | 18.1 | 21.2 | c.439G>A, V147I‡ | |
| P2 | M/60 | Bleeding after dental extraction, gingival bleeding (3) | 12.3 | 18.8 | c.790dupA, T264Nfs*6‡ | |
| P3 | F/36 | Bleeding after dental extraction/surgery, gingival bleeding (7) | 11.3 | 13.9 | c.912dupA, E305Rfs*20 | |
| P4 | M/33 | Gingival bleeding (4) | 14.2 | 17.4 | c.949C>T, Q317* | |
| P5 | F/27 | Bleeding after dental extraction (3) | 12.9 | 16.0 | c.1150-2A>G‡ | |
| P6 | F/22 | Gingival bleeding, menorrhagia (4) | 6.6 | 8.1 | c.149+1G>C‡ | |