The prevalence of heterozygous F12 mutations in Chinese population and its relevance to incidents of thrombosis

BMC Medical Genetics

Table 1 Summary of F12 mutations and clinical presentation of patients with venous thrombosis

Patient ID	gender	Age range	thrombotic events,times	F12 mutation	FXII:C (%)	PC:A (%)	FPS:Ag (%)	AT:A (%)	Hcy (μM)	APS-Ab
1	Female	30~ 39	DVT,2	A343P	33.2	98	86	115	3.4	ND
2	Female	30~ 39	DVT,1	A343P	44.8	110	90	101	7.2	ND
3	Male	50~ 59	DVT,2	A343P	53.3	84	79	98	4.9	ND
4	Male	40~ 49	CVST,1	A343P	51.8	122	101	93	9.0	ND
5	Male	30~ 39	DVT/PE,2	A343P	56.5	105	76	109	5.7	ND
6	Male	20~ 29	PE,1	D291E	72.9	92	80	110	4.1	ND
RR					50-150	70-140	60-130	85-120	6.3-15

FXII:C, factor XII activity; PC:A, protein C activity; FPS:Ag, free protein S antigen; AT:A, antithrombin activity; Hcy, homocysteine; APS-Ab, Anti-phospholipid syndrome-associated antibodies; DVT, deep vein thrombosis; CVST, cerebral venous sinus thrombosis; PE, pulmonary embolism; ND, not detected; RR, reference range

ISSN: 1471-2350