Family | Patient | Age at diagnosis/sex | Fib:C /Fib:Ag (mg/dl) | Phenotype | Gene/Exon | Protein | Genotype status | BS |
---|---|---|---|---|---|---|---|---|
I |
1 2 |
63 y/F 19 y/F |
46/331 55/311 |
Dysfibrinogenemia | FGA/2 | p.Arg38Thr | Hetero |
0 5 |
II | 3 | 29 y/F | 50/295 | Dysfibrinogenemia | FGA/2 | p.Arg35His | Hetero | 3 |
III | 4 | 23 y/M | 50/272 | Dysfibrinogenemia | FGA/2 | p.Arg301Cys | Hetero | 4 |
IV | 5 | 25 y/F | 60/261 | Dysfibrinogenemia | FGG/2 | p.Arg35His | Hetero | 1 |
V | 6 | 50 y/F | 27/370 | Dysfibrinogenemia | FGA/2 | p.Arg35cys | Hetero | 4 |
VI |
7 8 |
8 y/M 40 y/M |
35/289 41/317 |
Dysfibrinogenemia | FGA/2 | p.Arg38Thr | Hetero |
0 1 |
VII |
9 10 11 |
15 y/F 42 y/M 18 y/F |
30/336 32/319 <20/139 |
Dysfibrinogenemia Dysfibrinogenemia Hypodysfibrinogenemia |
FGG/8 | p.Arg301Cys | Hetero |
4 4 3 |
VIII | 12 | 3 y/F | 65/156 | Mild hypodysfibrinogenemia | FGA/4 | p.Val145Asp | Hetero | 4 |
IX | 13 | 6 d/F | undetectable | Afibrinogenemia | FGA/5 | p.Gly316GlufsX105 | Homo | 5 |