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.