Table 1. FV activity and antigen data... | American Society of Hematology

Table 1.

FV activity and antigen data from the families described in this study

	FV mutation	Genotype^*	FV activity (%)	FV antigen (%)
Normal plasma	—	—	60-120	70-130^†
Patient 1	8 bp deletion nts 1130-1139 & A5279G, Y1702C in trans	Compound heterozygous	< 1	< 3.1
Patient 2	1 bp deletion nts 4291/4294	Homozygous	< 1	< 3.1
Father		Heterozygous	57	56
Mother		Heterozygous	52	47
Patient 3	C2491T, Q773Term	Homozygous	< 1	ND
Patient 4	A1102T, K310Term	Heterozygous	34	51
Spouse		N	125	136
Child 1		Heterozygous	62	69
Child 2		Heterozygous	60	64
Child 3		N	109	142
Child 4		N	93	136
Patient 5 (III-1)	T1927C, C585R	Heterozygous	52	65
Father (II-4)		N	100	104
Mother (II-3)		Heterozygous	59	68
Sister (III-2)		Heterozygous	39	38
Uncle (II-2)		Heterozygous	55	59
Aunt (II-1)		Heterozygous	ND	66

	FV mutation	Genotype^*	FV activity (%)	FV antigen (%)
Normal plasma	—	—	60-120	70-130^†
Patient 1	8 bp deletion nts 1130-1139 & A5279G, Y1702C in trans	Compound heterozygous	< 1	< 3.1
Patient 2	1 bp deletion nts 4291/4294	Homozygous	< 1	< 3.1
Father		Heterozygous	57	56
Mother		Heterozygous	52	47
Patient 3	C2491T, Q773Term	Homozygous	< 1	ND
Patient 4	A1102T, K310Term	Heterozygous	34	51
Spouse		N	125	136
Child 1		Heterozygous	62	69
Child 2		Heterozygous	60	64
Child 3		N	109	142
Child 4		N	93	136
Patient 5 (III-1)	T1927C, C585R	Heterozygous	52	65
Father (II-4)		N	100	104
Mother (II-3)		Heterozygous	59	68
Sister (III-2)		Heterozygous	39	38
Uncle (II-2)		Heterozygous	55	59
Aunt (II-1)		Heterozygous	ND	66

N indicates normal; ND, not determined.

As tested for the applicable mutation.

Lower detection limit 3.1%