Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency

Thrombosis Journal

Table 2 Coagulation function indexs of proband and family members in hereditary antithrombin deficiency family

Family members	PT (s)	APTT (s)	TT (s)	Fg (g/L)	D-dimer	PS(%)	PC(%)	AT-III(%)
Proband A(III1)	11.70	25.10	14.80	4.17	6.66	23.20	78.20	36.20
II1	10.90	23.80	13.90	2.82	0.53	58.50	80.10	30.40
II2	11.20	24.60	16.50	2.10	0.23	63.20	123.30	90.50
II3	10.90	27.20	18.30	1.91	0.15	82.10	98.80	103.60
II4	12.80	29.80	15.10	2.32	0.32	75.60	103.00	99.20
III2	10.40	24.50	19.30	1.85	0.12	82.40	114.00	108.10
III3	9.80	26.10	18.70	2.10	0.25	83.80	89.60	111.90
IV1	13.00	26.50	19.20	2.70	0.30	89.20	128.30	103.70
Proband B(III1)	11.20	24.90	13.60	6.45	11.90	36.10	85.10	38.60
II4	12.10	25.90	14.50	2.30	0.48	61.20	79.00	49.80
II2	9.80	23.80	15.90	2.35	0.35	73.60	100.50	90.60
II3	11.50	26.50	16.10	1.92	0.27	78.10	115.30	87.90
II5	12.30	23.10	17.20	2.56	0.33	88.50	117.10	103.50
II6	11.60	28.70	16.60	1.99	0.23	65.70	97.20	99.70
III2	11.80	24.60	15.20	2.11	0.21	83.30	109.80	107.80
reference value	9.9–12.9	23.3–32.5	14–21	1.8–3.5	0–0.55	Male:75–130 Female:52–118	70–140	75–125

Note: PT prothrombin time, APTT activated partial thromboplastin time, TT thrombin time, Fg fibrinogen, PS protein S, PC protein C, AT antithrombin III

ISSN: 1477-9560