Table 1. Clinical features and laboratory findings of patients with congenital factor V deficiency in Korea.
| Case | Relationship | Age/Sex | Bleeding episodes | Bleeding severity | PT (sec) (N/I) | aPTT (sec) (N/I) | FV activity (%) | Mutations | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Proband | 14/F | Hematuria, menorrhagia | Grade II | 15.4 (I) | 48.1 (I) | 41 | p.(Asp96His) | Present study |
| 1-1 | Mother | 40/F | Asymptomatic | 14.1 (N) | 37.9 (N) | 44 | p.(Asp96His) | Present study | |
| 2 | Proband | 51/F | Easy bruisability | Grade II | 40.9 (I) | 106.0 (I) | 3 | p.[(Asn2010_Ser2011del)];[(Arg2202Cys)] | Present study |
| 2-1 | Daughter | 21/F | Suspected hematoma | Grade III | 12.6 (N) | 35.0 (N) | 39 | p.(Asn2010_Ser2011del) | Present study |
| 3 | Proband | 9/M | Hemarthrosis | Grade III | 36.0 (I) | 110.0 (I) | 6 | Not tested | 1987 [7] |
| 4 | Proband | 25/M | Prolonged bleeding after tooth extraction | Grade I | 35.7 (I) | 111.7 (I) | 4 | p.[(Arg1161*)];[(Asn2010_Ser2011del)] | 2009 [3] |
| 4-1 | Twin brother | 25/M | Prolonged bleeding after tooth extraction | Grade I | 33.1 (I) | 103.2 (I) | 5 | p.[(Arg1161*)];[(Asn2010_Ser2011del)] | 2009 [3] |
| 4-2 | Sister 1 | ?/F | Asymptomatic | 14.9 (N) | 42.5 (N) | 45 | p.(Arg1161*) | 2009 [3] | |
| 4-3 | Sister 2 | ?/F | Asymptomatic | 15.1 (I) | 46.6 (I) | 50 | p.(Asn2010_Ser2011del) | 2009 [3] |
Abbreviations: PT, prothrombin time; aPTT, activated partial thromboplastin time; N, within normal range; I, increased time than reference range; FV, factor V.