Table 2. F8 gene mutations distribution:... | American Society of Hematology

Table 2.

F8 gene mutations distribution: number of patients in the cohorts and risk of inhibitor development associated to each mutation^*

	FVIII-LFB; n = 62	Recombinant FVIII;†n = 86
High risk (“null mutation”)	36	44
Large insertion/deletion 2 or more exons	0	0
Point mutation nonsense light chain	2	4
Inversion (intron 1 or intron 22)	34	40
Other mutations	23	35
Small insertion/deletion non-A run	7	9
Point mutation nonsense heavy chain	3	11
Large insertion/deletion single exon	3	1
Point mutation missense light chain	2	4
Small mutation insertion/deletion A run	3	3
Point mutation missense heavy chain	4	6
Splicing error	1	1
Nonavailable (intron 22–negative)	3	7

	FVIII-LFB; n = 62	Recombinant FVIII;†n = 86
High risk (“null mutation”)	36	44
Large insertion/deletion 2 or more exons	0	0
Point mutation nonsense light chain	2	4
Inversion (intron 1 or intron 22)	34	40
Other mutations	23	35
Small insertion/deletion non-A run	7	9
Point mutation nonsense heavy chain	3	11
Large insertion/deletion single exon	3	1
Point mutation missense light chain	2	4
Small mutation insertion/deletion A run	3	3
Point mutation missense heavy chain	4	6
Splicing error	1	1
Nonavailable (intron 22–negative)	3	7

Classification from Goodeve²⁷ and Oldenburg et al.²⁸

Recombinate (n = 62) or Kogenate (n = 24)