Table 1. Clinical and hematologic... | American Society of Hematology

Table 1.

Clinical and hematologic features of patients with P5′N-1 deficiency

Mutation	No. of patients described	Country of origin	Age at diagnosis, y	Hb, g/dL^*	Reticulocytes, %†	Unconjugated bilirubin, μmol/L‡	Residual P5′N-1 activity, %	Reference no.
D87V	2	Norway	0-7	10.7-10.9	8.0-9.0	47-63	2-5	5
L131P	1	Japan	53	11.1	5.6	55	52.3	7
N179S	1	Italy	21	9.2	18	58	2	11
G230R	5	Japan	5-28	10.1-15.2	4.4-8.0	8.5-80	9.7-63.8	7

Mutation	No. of patients described	Country of origin	Age at diagnosis, y	Hb, g/dL^*	Reticulocytes, %†	Unconjugated bilirubin, μmol/L‡	Residual P5′N-1 activity, %	Reference no.
D87V	2	Norway	0-7	10.7-10.9	8.0-9.0	47-63	2-5	5
L131P	1	Japan	53	11.1	5.6	55	52.3	7
N179S	1	Italy	21	9.2	18	58	2	11
G230R	5	Japan	5-28	10.1-15.2	4.4-8.0	8.5-80	9.7-63.8	7

Reference value is 12.5 to 16.7 g/dL.

Reference value is less than 2%.

Reference value is less than 12.8 μmol/L.