Clinical and laboratory parameters of the FLNa patients enrolled in the study and their mutations
| Patient . | Syndrome . | Mutation . | Platelet count (× 1000/μL) . | Bleeding syndrome . |
|---|---|---|---|---|
| P1 | PVNH | c.4573_4insA, p.Tyr1525X | 80 | Excessive/easy bruising tendency |
| Menometrorrhagia | ||||
| Impaired wound healing | ||||
| P2 | PVNH | Deletion exons 31-32 to 48 | 238 | Excessive/easy bruising tendency |
| Mucocutaneous hemorrhages | ||||
| Menometrorrhagia | ||||
| Impaired wound healing | ||||
| P3 | Isolated thrombocytopenia | p.Glu1803Lys | 40-60 | Petechial hemorrhages |
| Mucocutaneous hemorrhages | ||||
| Menometrorrhagia | ||||
| Bleeding after surgery | ||||
| Impaired wound healing |
| Patient . | Syndrome . | Mutation . | Platelet count (× 1000/μL) . | Bleeding syndrome . |
|---|---|---|---|---|
| P1 | PVNH | c.4573_4insA, p.Tyr1525X | 80 | Excessive/easy bruising tendency |
| Menometrorrhagia | ||||
| Impaired wound healing | ||||
| P2 | PVNH | Deletion exons 31-32 to 48 | 238 | Excessive/easy bruising tendency |
| Mucocutaneous hemorrhages | ||||
| Menometrorrhagia | ||||
| Impaired wound healing | ||||
| P3 | Isolated thrombocytopenia | p.Glu1803Lys | 40-60 | Petechial hemorrhages |
| Mucocutaneous hemorrhages | ||||
| Menometrorrhagia | ||||
| Bleeding after surgery | ||||
| Impaired wound healing |
Red cell and leukocyte counts were normal for all 3 patients.