Table 1 Patient demographics and... | American Society of Hematology

Table 1

Patient demographics and characteristics

Patient	Age, y	Sex	Ethnicity	Genotype	Hemoglobin, g/dL					Platelets, ×10⁹/L					Normalized spleen volume, multiple of normal					Normalized liver volume, multiple of normal
Patient	Age, y	Sex	Ethnicity	Genotype	Baseline	6 mo	9 mo	24 mo	48 mo	Baseline	6 mo	9 mo	24 mo	48 mo	Baseline	6 mo	9 mo	24 mo	45 mo	Baseline	6 mo	9 mo	24 mo	45 mo
1	24	F	Arab	N370S/N370S	10.8	12.2	12.5	12.4	12.7	80	123	149	155	130	17.5	11.0	10.0	8.0	6.5	2.3	1.8	1.9	1.5	1.2
2	62	M	Ashkenazi	N370S/L444P	12.7	14.1	14.8	14.3	14.2	69	74	90	127	142	11.0	7.5	6.0	4.0	3.0	1.0	1.0	0.9	1.0	0.8
3	35	M	Ashkenazi	N370S/other	13.5	15.7	16.5	15.7	16.0	48	95	128	140	151	17.5	8.0	6.5	*	*	2.2	1.6	1.7	1.3	1.2
5	35	F	Ashkenazi	N370S/N370S	10.6	11.7	12.0			52	68	72			32.5	23.0	24.5			1.7	1.8	1.6
6	44	F	Ashkenazi	N370S/IVS2+1	10.9					56					16.0					2.1
7	42	F	Ashkenazi	N370S/N370S	10.5	12.5	12.5	13.8	13.0	37	32	39	42	95	21.0	13.5	13.0	7.0	4.0	1.8	1.7	1.6	1.4	1.0
8	23	F	Romanian	N370S/RecNci	10.0	12.1	11.8	12.7	14.2	65	137	150	154	203	19.0	9.0	7.0	3.5	3.5	2.2	1.6	1.6	1.2	1.2
9	25	M	Romanian	N370S/RecNci	12.6	15.8	15.9	15.8	15.1	69	97	120	178	183	28.0	12.5	10.0	4.0	2.5	2.0	1.4	1.4	1.1	0.9
10	60	F	Ashkenazi	N370S/N370S	10.1	11.1	12.5	12.4	12.4	48	60	86	121	139	19.0	11.0	8.5	3.5	3.0	1.4	1.2	1.0	0.8	0.8
11	18	F	Serbian	N370S/other	11.0	13.8	13.6	13.6	12.6	59	98	110	122	130	15.0	9.0	8.0	5.0	3.5	1.4	1.1	1.0	1.1	0.8
12	69	M	Ashkenazi	N370S/N370S	13.5	14.4	14.1			59	65	99			13.0	9.0	7.5			1.0	1.0	1.0
13	56	M	Ashkenazi	N370S/V394L	12.9	15.9	16.6	15.4	16.0	46	40	36	111	135	19.5	10.0	8.0	4.5	2.5	1.0	0.8	0.8	0.8	0.7

Patient	Age, y	Sex	Ethnicity	Genotype	Hemoglobin, g/dL					Platelets, ×10⁹/L					Normalized spleen volume, multiple of normal					Normalized liver volume, multiple of normal
Patient	Age, y	Sex	Ethnicity	Genotype	Baseline	6 mo	9 mo	24 mo	48 mo	Baseline	6 mo	9 mo	24 mo	48 mo	Baseline	6 mo	9 mo	24 mo	45 mo	Baseline	6 mo	9 mo	24 mo	45 mo
1	24	F	Arab	N370S/N370S	10.8	12.2	12.5	12.4	12.7	80	123	149	155	130	17.5	11.0	10.0	8.0	6.5	2.3	1.8	1.9	1.5	1.2
2	62	M	Ashkenazi	N370S/L444P	12.7	14.1	14.8	14.3	14.2	69	74	90	127	142	11.0	7.5	6.0	4.0	3.0	1.0	1.0	0.9	1.0	0.8
3	35	M	Ashkenazi	N370S/other	13.5	15.7	16.5	15.7	16.0	48	95	128	140	151	17.5	8.0	6.5	*	*	2.2	1.6	1.7	1.3	1.2
5	35	F	Ashkenazi	N370S/N370S	10.6	11.7	12.0			52	68	72			32.5	23.0	24.5			1.7	1.8	1.6
6	44	F	Ashkenazi	N370S/IVS2+1	10.9					56					16.0					2.1
7	42	F	Ashkenazi	N370S/N370S	10.5	12.5	12.5	13.8	13.0	37	32	39	42	95	21.0	13.5	13.0	7.0	4.0	1.8	1.7	1.6	1.4	1.0
8	23	F	Romanian	N370S/RecNci	10.0	12.1	11.8	12.7	14.2	65	137	150	154	203	19.0	9.0	7.0	3.5	3.5	2.2	1.6	1.6	1.2	1.2
9	25	M	Romanian	N370S/RecNci	12.6	15.8	15.9	15.8	15.1	69	97	120	178	183	28.0	12.5	10.0	4.0	2.5	2.0	1.4	1.4	1.1	0.9
10	60	F	Ashkenazi	N370S/N370S	10.1	11.1	12.5	12.4	12.4	48	60	86	121	139	19.0	11.0	8.5	3.5	3.0	1.4	1.2	1.0	0.8	0.8
11	18	F	Serbian	N370S/other	11.0	13.8	13.6	13.6	12.6	59	98	110	122	130	15.0	9.0	8.0	5.0	3.5	1.4	1.1	1.0	1.1	0.8
12	69	M	Ashkenazi	N370S/N370S	13.5	14.4	14.1			59	65	99			13.0	9.0	7.5			1.0	1.0	1.0
13	56	M	Ashkenazi	N370S/V394L	12.9	15.9	16.6	15.4	16.0	46	40	36	111	135	19.5	10.0	8.0	4.5	2.5	1.0	0.8	0.8	0.8	0.7

Patient demographics and characteristics at baseline and at select points of evaluation during the phase 1/2 and extension trials including the last values collected for each clinical parameter for the cohort. Normalized liver and spleen volumes are defined as 2.5% and 0.2%, respectively, of total body weight in kilograms.⁵ Multiples of normal is the observed organ volume divided by the normalized organ volume. By 24 months, all patients demonstrated normalization of hemoglobin concentrations and all but 1 patient demonstrated platelet counts greater than 100 × 10⁹/L.

F indicates female; and M, male.

Spleen volume not interpretable because of technical artifact.

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