Table 1

General features of autosomal recessive deficiency of coagulation factors

DeficiencyEstimated 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) 
DeficiencyEstimated 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.

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