Patients: |
2 |
3 |
4 |
5 |
6* |
7* |
8 |
Abnormal results |
Factor VIII (60-150%) |
>200 |
101 |
44 |
>200 |
175 |
122 |
65 |
4/7 |
Factor IX (60-150%) |
74 |
63 |
40 |
140 |
78 |
108 |
71 |
1/7 |
Factor XI (60-140%) |
11 |
28 |
12 |
21 |
49 |
77 |
10 |
6/7 |
Antithrombin (80-120%) |
28 |
55 |
39 |
37 |
31 |
60 |
40 |
7/7 |
Protein C (70-130%) |
34 † |
58 |
48 |
59 |
56 † |
45 † |
24 |
7/7 |
Protein S (70-130%) |
48 † |
68 |
58 |
46╪ |
60 ‡ |
61 ‡ |
42 ╪ |
7/7 |
aPTT (Patient/Control; <1.3) |
37 seconds (25-38) |
1.0 |
1.3 |
1.3 |
ND |
ND |
ND |
2/4 |
PT (IRN;1.0-1.2) |
1,6 |
1.0 |
1.0 |
1.1 |
ND |
ND |
ND |
¼ |
|
* Siblings.
Normal values in parenthesis; Abnormal values are in bold.
Patient 1 had no coagulation tests performed.
aPTT: activated partial thromboplastin time; PT: prothrombin time; INR: International Normalized Ratio; ND=not done; reference ranges † =70-120%; ‡ = 64-126%; +
= 72-150%. |
Table 4: Plasma levels of coagulation factors, natural anticoagulants, activated partial thromboplastin time, and prothrombin time of non-PMM2, non-PMI-CDG-I patients. |