Table 1 Phenotype and genotype results of pedigree 1 with severe type 1 FXIIIA deficiency
| Â | Sex/year | ABO blood type | VWF:Ag (%) | VWF:A (%) | FVIII:C (%) | FXIII:Act (%) | FXIII-A: Ag (%) | FXIII-B: Ag (%) | F13A1 mutations |
|---|---|---|---|---|---|---|---|---|---|
Proband 1 | F/15 | O | 51.4 | 58.5 | 85.8 | < 5 | < 3 | 115.9 | c.1149G > T, p.Arg383Ser and c.1147del, p.Arg383GlyfsTer82 |
Mother | F/40 | O | 53.8 | 52.5 | 61.4 | 52.9 | 40.7 | 98.7 | c.1149G > T, p.Arg383Ser |
Father | M/43 | O | 134.5 | 123.1 | 114.3 | 65.1 | 57.6 | 103.1 | c.1147del, p.Arg383GlyfsTer82 |