Table 2. Mutations in Patients With... | American Society of Hematology

Table 2.

Mutations in Patients With Nonsevere Hemophilia and Inhibitors

Location			Mutation	Factor VIII Level (%)		Reference
Domain	Exon	Codon	Codon/Amino Acid	VIII:C	VIII:Ag

A1	5	198	CTT to CAT	2	5
			Leu to His
					Pieneman et al19
A2	12	593	CGC to TGC	9	13
			Arg to Cys
A2	14	701	GGC to AGC	2	—	Bidichandani et al20
			Gly to Asp
A3	14	1689	CGC to CAC	11	100	Schwaab et al21
			Arg to His
C1	2	2150	CGT to CAT	12	—	Santagostino et al²²^*
			Arg to His
C2	24	2209	CGA to CAA	7	130	Schwaab et al²³^*
			Arg to Gln
C2	25	2229	TGG to TGT	3	—	Naylor et al24
			Trp to Cys

Location			Mutation	Factor VIII Level (%)		Reference
Domain	Exon	Codon	Codon/Amino Acid	VIII:C	VIII:Ag

A1	5	198	CTT to CAT	2	5
			Leu to His
					Pieneman et al19
A2	12	593	CGC to TGC	9	13
			Arg to Cys
A2	14	701	GGC to AGC	2	—	Bidichandani et al20
			Gly to Asp
A3	14	1689	CGC to CAC	11	100	Schwaab et al21
			Arg to His
C1	2	2150	CGT to CAT	12	—	Santagostino et al²²^*
			Arg to His
C2	24	2209	CGA to CAA	7	130	Schwaab et al²³^*
			Arg to Gln
C2	25	2229	TGG to TGT	3	—	Naylor et al24
			Trp to Cys

Factor VIII abbreviations are as in Table 1.

Maximal inhibitor titer reported and >100 BU/mL.