Table 1. Comparison of Phenotype of... | American Society of Hematology

Table 1.

Comparison of Phenotype of Hemophilia A Patients and Expression of Their Respective Recombinant Proteins

Mutation	Exon	Classification	Nucleotide Change	Phenotype	Patients' Plasma (% of normal)		COS CM (% of WT)		Reference
Mutation	Exon	Classification	Nucleotide Change	Phenotype	Activity	Antigen	Activity	Antigen	Reference
R527W	11	CRM-pos	CGG-TGG	mild	9.5-38	43-245	37 ± 5	51 ± 12	12, 35
S558F	11	CRM-pos	TCT-TTT	mild	21	175	6 ± 1	57 ± 9	12
I566T	12	CRM-pos	ATA-ACA	severe-moderate	<1-4	154-200	4 ± 3	72 ± 19	25, 35
V634A	13	CRM-pos	GTG-GCG	mild	5	138	4 ± 2	71 ± 11	12
V634M	13	CRM-pos	GTG-ATG	severe	<1	175	3 ± 3	104 ± 14	12
DeltaF652/3	13	CRM-red	deletion of TTC	severe	1	12	1 ± 2	42 ± 3	12
S558A			TCT-GCA				45 ± 5	79 ± 13

Mutation	Exon	Classification	Nucleotide Change	Phenotype	Patients' Plasma (% of normal)		COS CM (% of WT)		Reference
Mutation	Exon	Classification	Nucleotide Change	Phenotype	Activity	Antigen	Activity	Antigen	Reference
R527W	11	CRM-pos	CGG-TGG	mild	9.5-38	43-245	37 ± 5	51 ± 12	12, 35
S558F	11	CRM-pos	TCT-TTT	mild	21	175	6 ± 1	57 ± 9	12
I566T	12	CRM-pos	ATA-ACA	severe-moderate	<1-4	154-200	4 ± 3	72 ± 19	25, 35
V634A	13	CRM-pos	GTG-GCG	mild	5	138	4 ± 2	71 ± 11	12
V634M	13	CRM-pos	GTG-ATG	severe	<1	175	3 ± 3	104 ± 14	12
DeltaF652/3	13	CRM-red	deletion of TTC	severe	1	12	1 ± 2	42 ± 3	12
S558A			TCT-GCA				45 ± 5	79 ± 13

The activity and antigen in COS CM represent mean ± SD of the three independent transfections.