Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

Table 2 Assessment of coagulation markers and bleeding scores with consanguinity/ethnicity

IP#	Fibrinogen Level (g/l)	Thrombin Time (Sec)	Prothrombin Time (Sec)	Activated partial thromboplastin Time (aPTT)(Sec)	Bleeding Score	Consanguinity	Interfamilial Relation	Ethnic Origin
C1	0.01	23	>120	>180	20	positive	Unrelated	Urdu Speaking
C2	0.02	24	>120	>180	21	positive	Unrelated	Punjabi
C3	0	33	>120	>180	22	positive	Unrelated	Punjabi
C4	0.1	24	>120	>180	17	positive	Unrelated	Urdu Speaking
C5	0.02	31	>120	>180	20	positive	Unrelated	Sindhi
C6	0.01	25	>120	>180	20	positive	Unrelated	Urdu speaking
C7	0.02	29	>120	>180	22	positive	Unrelated	Sindhi
C8	0.0	30	>120	>180	20	positive	Unrelated	Sindhi
C9	0.0	32	>120	>180	22	positive	Unrelated	Punjabi
C10	0.01	25	>120	>180	16	positive	Unrelated	Punjabi
C11A	0.02	28	>120	>180	18	positive	**	Punjabi
C11B	0.01	24	>120	>180	16	positive	**	Punjabi
C12	0.0	30	>120	>180	21	positive	Unrelated	Punjabi
C13	0.01	24	>120	>180	20	positive	Unrelated	Punjabi
C14	0.0	26	>120	>180	21	positive	Unrelated	Punjabi
C15A	0.02	24	>120	>180	20	positive	**	Punjabi
C15B	0.01	25	>120	>180	21	positive	**	Punjabi

Shows the individual test values of PT, aPTT and fibrinogen (Claus Method), consanguinity and the relationship status. Bleeding score calculated, Tosetto et al. [26]. ** Siblings, NA not available, s (seconds). The fibrinogen levels in all patients were found to be equal to or lower than 0.1 g/l (Normal Range 2-4 g/dl), PT more than 120 s (Normal Range 9–11 s) aPTT more than 180 s (Normal Range 24–27 s) and prolonged thrombin time (normal range 10–13 s). Ethnicity explains the frequency of majorly affected, thickly populated and largest province of Pakistan (Punjab)

ISSN: 1477-9560