General features of autosomal recessive deficiency of coagulation factors
Deficiency . | Estimated prevalence* . | Gene (chromosome) . | Laboratory diagnosis . |
---|---|---|---|
Fibrinogen | 1 in 1 million | FGA, FGB, FGG (all on 4q28) | Afibrinogenemia: TT ↑↑, APTT ↑↑, PT ↑↑ |
Dys- and Hypodisfibrinogenemia: TT ↑, APTT ↑, PT ↑↑ | |||
Prothrombin | 1 in 2 million | F2 (11p11–q12) | TT normal, APTT ↑, PT ↑ |
Factor V | 1 in 1 million | F5 (1q24.2) | TT normal, APTT ↑, PT ↑ |
Combined factor V and VIII | 1 in 1 million | LMAN1 (18q21.3–q22) | TT normal, APTT ↑, PT ↑ |
MCFD2 (2p21–p16.3) | |||
Factor VII | 1 in 500 000 | F7 (13q34) | TT normal, APTT normal, PT ↑ |
Factor X | 1 in 1 million | F10 (13q34) | TT normal, APTT ↑, PT ↑ |
Factor XI | 1 in 1 million | F11 (4q35.2) | TT normal, APTT ↑, PT normal |
Factor XIII | 1 in 2 million | F13A1 (6p24–p25) | TT normal, APTT normal, PT normal Specific assays required |
F13B (1q31–q32.1) | TT normal, APTT normal, PT normal Specific assays required | ||
Vitamin-K dependent coagulation factors | Reported in <50 families | GGCX (2p12) | TT normal, APTT ↑, PT ↑↑ |
VKORC1 (16p11.2) |
Deficiency . | Estimated prevalence* . | Gene (chromosome) . | Laboratory diagnosis . |
---|---|---|---|
Fibrinogen | 1 in 1 million | FGA, FGB, FGG (all on 4q28) | Afibrinogenemia: TT ↑↑, APTT ↑↑, PT ↑↑ |
Dys- and Hypodisfibrinogenemia: TT ↑, APTT ↑, PT ↑↑ | |||
Prothrombin | 1 in 2 million | F2 (11p11–q12) | TT normal, APTT ↑, PT ↑ |
Factor V | 1 in 1 million | F5 (1q24.2) | TT normal, APTT ↑, PT ↑ |
Combined factor V and VIII | 1 in 1 million | LMAN1 (18q21.3–q22) | TT normal, APTT ↑, PT ↑ |
MCFD2 (2p21–p16.3) | |||
Factor VII | 1 in 500 000 | F7 (13q34) | TT normal, APTT normal, PT ↑ |
Factor X | 1 in 1 million | F10 (13q34) | TT normal, APTT ↑, PT ↑ |
Factor XI | 1 in 1 million | F11 (4q35.2) | TT normal, APTT ↑, PT normal |
Factor XIII | 1 in 2 million | F13A1 (6p24–p25) | TT normal, APTT normal, PT normal Specific assays required |
F13B (1q31–q32.1) | TT normal, APTT normal, PT normal Specific assays required | ||
Vitamin-K dependent coagulation factors | Reported in <50 families | GGCX (2p12) | TT normal, APTT ↑, PT ↑↑ |
VKORC1 (16p11.2) |
APTT, activated partial thromboplastin time; PT, prothrombin time; TT, thrombin time.
Including dysfunctional proteins.