Clinical parameters of the FLNa patients
Patients . | Sex . | References . | Syndrome . | Mutation . | Platelet count, × 109/L . | Bleeding syndrome . |
---|---|---|---|---|---|---|
1 | Female | 44, 45 | PVNH | c.4573_4insA, p.Tyr1525X. | 80 | Excessive/easy bruising tendency, menometrorrhagia. |
2 | Female | 43-45 | PVNH | Deletion exons 31-32 to 48 | 238 | Excessive/easy bruising, mucocutaneous hemorrhages, and menometrorrhagia. |
3 | Female | 44, 45 | Isolated thrombocytopenia | p.Glu1803Lys | 40-60 | Petechial hemorrhages, mucocutaneous hemorrhages, menometrorrhagia, and bleeding after surgery. |
4 | Female | 43, 44 | PVNH | Deletion exons 20 to 48 | 110 | Metrorrhagia |
5 | Male | 26 | PVNH | c.7941_7942delCT, p.2648Serext100. | 220-300 | No bleeding |
6 | Female | 27 | PVNH | c.1621G>T, p.Glu541Ter. | Mild thrombocytopenia | ? |
Patients . | Sex . | References . | Syndrome . | Mutation . | Platelet count, × 109/L . | Bleeding syndrome . |
---|---|---|---|---|---|---|
1 | Female | 44, 45 | PVNH | c.4573_4insA, p.Tyr1525X. | 80 | Excessive/easy bruising tendency, menometrorrhagia. |
2 | Female | 43-45 | PVNH | Deletion exons 31-32 to 48 | 238 | Excessive/easy bruising, mucocutaneous hemorrhages, and menometrorrhagia. |
3 | Female | 44, 45 | Isolated thrombocytopenia | p.Glu1803Lys | 40-60 | Petechial hemorrhages, mucocutaneous hemorrhages, menometrorrhagia, and bleeding after surgery. |
4 | Female | 43, 44 | PVNH | Deletion exons 20 to 48 | 110 | Metrorrhagia |
5 | Male | 26 | PVNH | c.7941_7942delCT, p.2648Serext100. | 220-300 | No bleeding |
6 | Female | 27 | PVNH | c.1621G>T, p.Glu541Ter. | Mild thrombocytopenia | ? |