Homozygous FVII deficiencies with different reactivity towards tissue thromboplastins of different origin

Figures & data

Table 1. Cases of homozygous with Arg304Trp, Arg304Gln (FVII Padua), or Arg79Gln FVII deficiency studied by at least two thromboplastins of different origin as reported in the literature

Author (years)	Eponym	FVII Act. (% of normal)					FVII Ant. (% of normal)	Bleeding tendency	Mutation (exon)	Comments
		Rabbit brain	Human placenta	Human recombinant	Ox brain	Simian brain
Girolami et al. (1978–1993)
Case 1		8	36	30	105	29	95	Mild	Arg304Gln^Citation8	Daughter of case 1
Case 2		9	32	28	110	23	110	Mild		Different kindred
Case 3		13	36	32	100	36	105	None		Different kindred
Case 4		10	34	29	105	30	110	Mild		Different kindred
Case 5		8	33	30	105	32	120	Mild		So far unpublished. (Different kindred)
Case 6		7	29	27	95	34	95	Mild
O'Brien et al. (1991)		1	30	n.r.	n.r.	n.r.	100	None	Arg304Gln^Citation8	Studies carried out on purified material
Shurafa et al. (1993)		14	21	n.r.	124	n.r.	n.r.	None	Arg304Gln^Citation8	Afro-American
Peyvandi et al. (1997–2000)
Case 1		1	n.r.	37	Normal	n.r.	240	None
Case 2		1	n.r.	27	Normal	n.r.	224	Mild	Arg304Gln^Citation8	Levels obtained with ox-brain reagents unspecified
Case 3		1	n.r.	24	Normal	n.r.	156	None		Cases 1–4 belong to same kindred
Case 4		1	n.r.	17	Normal	n.r.	106	None
Case 5		1	n.r.	22	Normal	n.r.	130	None
Horellou et al. (2007)
Case 1		2–5	25–89	25–89	n.r.	n.r.	Normal	None	Arg304Gln^Citation8	Values supplied as a range
Case 2		2–5	25–89	25–89	n.r.	n.r.	Normal	None	Arg304Gln^Citation8
Kirkel et al. (2010)		7	n.r.	77	n.r.	n.r.	121	None	Arg304Gln^Citation8
Matsushita T et al. (1994)	Nagoya	5	n.r.	16	60	n.r.	100	None	Arg304Trp^Citation8
Takamiya et al. (1995)	Shinjo	11	100	n.r.	150	25	115	None	Arg79Gln^Citation4	One brother similarly affected
Takamiya et al. (1998)	Tondabayshi	6	36	38	68	35	65	None	Arg79Gln^Citation4
Horellou MH et al. (2007)	n.r.	2–5	25–89	n.r.	n.r.	n.r.	Normal	None	Arg79Gln^Citation4	Values entered as range

For calculation purposes, clotting levels of less than 1% of normal are entered as 1%. Similarly, antigen values supplied as normal have been entered as 100%.

Peyvandi F, Mannucci PM, Asti D, Abdoullahi M, Di Rocco N, Sharifian R. Clinical manifestations in 28 Italian and Iranian patients with severe factor VII deficiency. Haemophilia. 1997;3:242–6.

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James HL, Kumar A, Girolami A, Hubbard J, Fair DS. Variant coagulation factors X and VII with point mutations in a highly conserved motif in the substrate binding pocket. Comparative molecular modelling. Thromb Haemost. 1991;65(Suppl.):932 (abstract).

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