Table 1.

Clinical manifestations, genotypes, and phenotypic characteristics according to traditional fibrinogen assays.

	Patient	Age	Gender	Phenotypes	Fg Act	Fg Ag	Type	Gene	Mutation	Family Members
Family 1	HEL 1.1	72	Female	Asymptomatic	1.3	1.3	Hypo 1	FGG, exon 8	het Thr303Pro and het Asp327His	Thrombosis
	HEL 1.2	24	Male	Asymptomatic	0.7	0.7	Hypo 1	FGG, exon 8	het Thr303Pro and het Asp327His
	HEL 1.3	48	Female	Thrombosis	1.0	1.2	Hypo 1	FGG, exon 8	het Thr303Pro and het Asp327His
Family 2	HEL 2.1	82	Male	Thrombosis	1.2	2.5	Dys 2	FGG, exon 8	het Tyr306Cys	Thrombosis
	HEL 2.2	58	Male	Asymptomatic	1.6	2.5	Dys 2	FGG, exon 8	homozygous Tyr306Cys
	HEL 2.3	83	Male	Asymptomatic	1.7	3.5	Dys 2	FGG, exon 8	het Tyr306Cys
Family 3	HEL 3.1	40	Female	Bleeding and thrombosis	1.0	1.7	Hypo 1	FGG, exon 8	het Thr303Pro and het Asp327His	Bleeding and thrombosis *
	HEL 3.2	30	Female	Bleeding	<1	0.7	Hypo 1	FGG, exon 8	het Thr303Pro and het Asp327His
Not related	HEL 4	35	Female	Asymptomatic	0.8	1.8	Hypodys 3	FGG, exon 9	het Trp395Leu	Thrombosis
	HEL 5	38	Female	Asymptomatic	<1	2.6	Dys 2	FGG, exon 9	het c.1283-1284 del TG	Thrombosis
	HEL 6	43	Female	Asymptomatic	1.9	2.4	Dys 2	FGA, exon 2	het Leu28Pro	NA
	HEL 7	47	Female	Bleeding	<1	1.0	Hypo 1	FGG, exon 9	het Thr397Ile	Bleeding
	GEN 1	37	Female	Bleeding	0.6	2.4	Dys 2	FGG	Arg301His	Bleeding
	GEN 2	39	Female	Asymptomatic	0.5	1.8	Dys 2	FGB	c.402_410 del GGAAGCTGT	NA
	GEN 3	49	Female	Bleeding	0.7	2.1	Dys 2	FGA	Arg35His	Bleeding
	GEN 4	30	Male	Asymptomatic	0.7	1.4	Hypo 1	FGB	Thr407Met	Bleeding
	GEN 5	51	Male	Asymptomatic	0.5	2.8	Dys 2	FGA	Arg38Gly	Asymptomatic
	GEN 6	44	Male	Asymptomatic	1.1	1.2	Hypo 1	FGG	Arg375Trp	Asymptomatic
	GEN 7	57	Female	Bleeding and thrombosis	1.1	1.8	Hypodys 3	FGB	Arg285Leu	Bleeding
	GEN 8	31	Male	Asymptomatic	0.4	0.4	Hypo 1	FGA	11 kb del	Asymptomatic
	GEN 9	53	Female	Asymptomatic	0.6	3.1	Dys 2	FGA	Arg35His	NA
	GEN 10	21	Female	Bleeding	0.9	1.0	Hypo 1	FGB	Arg294Ser	Asymptomatic

¹ Hypofibrinogenemia, ² Dysfibrinogenemia, ³ Hypodysfibrinogenemia.