Table 2.

Clinical parameters of the FLNa patients

PatientsSexReferencesSyndromeMutationPlatelet count, × 109/LBleeding syndrome
Female 44, 45  PVNH c.4573_4insA, p.Tyr1525X. 80 Excessive/easy bruising tendency, menometrorrhagia. 
Female 43-45  PVNH Deletion exons 31-32 to 48 238 Excessive/easy bruising, mucocutaneous hemorrhages, and menometrorrhagia. 
Female 44, 45  Isolated thrombocytopenia p.Glu1803Lys 40-60 Petechial hemorrhages, mucocutaneous hemorrhages, menometrorrhagia, and bleeding after surgery. 
Female 43, 44  PVNH Deletion exons 20 to 48 110 Metrorrhagia 
Male 26  PVNH c.7941_7942delCT, p.2648Serext100. 220-300 No bleeding 
Female 27  PVNH c.1621G>T, p.Glu541Ter. Mild thrombocytopenia 
PatientsSexReferencesSyndromeMutationPlatelet count, × 109/LBleeding syndrome
Female 44, 45  PVNH c.4573_4insA, p.Tyr1525X. 80 Excessive/easy bruising tendency, menometrorrhagia. 
Female 43-45  PVNH Deletion exons 31-32 to 48 238 Excessive/easy bruising, mucocutaneous hemorrhages, and menometrorrhagia. 
Female 44, 45  Isolated thrombocytopenia p.Glu1803Lys 40-60 Petechial hemorrhages, mucocutaneous hemorrhages, menometrorrhagia, and bleeding after surgery. 
Female 43, 44  PVNH Deletion exons 20 to 48 110 Metrorrhagia 
Male 26  PVNH c.7941_7942delCT, p.2648Serext100. 220-300 No bleeding 
Female 27  PVNH c.1621G>T, p.Glu541Ter. Mild thrombocytopenia 
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