Table 1.

The pattern of mutation and clinical symptoms in FV deficiency family.

	Genotype	Patient 1	Patient 2	Father	Mother
Exon 3 Asp68His	Heterozygote gac → cac	Heterozygote	Heterozygote	Heterozygote
Exon 8 Met385Thr	Heterozygote atg → acg	Heterozygote	Heterozygote		Heterozygote
Exon13 Asn789Thr	Heterozygote aac → acc	Heterozygote	Heterozygote		Heterozygote
Exon13 Lys830Arg	Heterozygote aaa → aga	Heterozygote	Heterozygote	Heterozygote
Exon13 His837Arg	Heterozygote cat → cgt	Heterozygote	Heterozygote	Heterozygote
Exon13 Lys897Glu	Heterozygote aag → gag	Heterozygote	Heterozygote	Heterozygote
Exon16 Met1736Val	Homozygote atg → gtg	Homozygote	Homozygote	Heterozygote	Heterozygote
Exon25 Asp2194Gly	Heterozygote gat → ggt	heterozygote	Heterozygote
Clinical presentation
Age		19	20	51	44
Clinical symptoms		Easy bruising	1. Easy bruising 2. Postpartum hemorrhage	No bleeding episode	No bleeding episode
Factor V activity, % (50–150%)		3.2%	2%	58%	54%
PT: sec (range: 8–12)		22.2	13.7	10.2	10.4
APTT: sec (range: 25.0–31.3)		53.2	33.8	30.5	31.0

Patient 1 and 2 both had the same clinical symptoms and the Factor V activity.

PT, Prothrombin time; APTT, Activated partial thromboplastin time.