Table 1. Characteristics of the patients... | American Society of Hematology

Table 1.

Characteristics of the patients studied

Sample no.	TFR2 genotype	Age,y	Sex	Hb level, g/dL	TS, %	Ferritin level, μg/L	Nanograms of hepcidin per milligram of creatinine	Therapy	Interval from last phlebotomy	Reference no.
1	AVAQ homozygote	37	M	15.7	105	33	< 1	Phlebotomy	15 d	14
2	AVAQ homozygote	35	M	14.7	100	193	7	Phlebotomy	15 d	14
3	M172K homozygote^*	55	M	12	82	300	< 1	deferoxamine 1 g s.c. 2x weekly	NA	16
4	Y250X homozygote†	18	M	15.7	88	94	4	Phlebotomy	3 mo	12
5	Y250X homozygote	66	F	13.1	78	292	19	Phlebotomy	2 mo	13
6	Y250X homozygote	38	M	14.9	100	697	17	Phlebotomy	1 d	13
7a	Y250X homozygote†	3.5	M	11.9	70	45	57	—	NA	12
7b	Y250X homozygote†	3.5	M	ND	ND	ND	90	—	NA
8	E60X homozygote	42	M	15.7	78	623	15	Phlebotomy	3 y	13
9	E60X homozygote	48	F	12.5	82	159	46	Phlebotomy	3 y	13
10	E60X homozygote	46	F	13.0	83	23	8	—	NA	13
11	HJV homozygote^*	33	F	10.3	233	13	< 1	Phlebotomy	2 mo	3
12	AVAQ heterozygote	62	F	14.5	26	47	58	NA	NA	14
13	AVAQ heterozygote	67	M	16.8	34	66	82	NA	NA	14
14	AVAQ heterozygote	30	F	15.8	16	15	16	NA	NA	14
15	Control 1	23	M	16.6	ND	126	113	NA	NA
16	Control 2	25	M	15.6	ND	98	105	NA	NA
17	Control 3	3	M	11.4	ND	ND	49	NA	NA
18	Control 4	5	F	12	ND	ND	80	NA	NA

Sample no.	TFR2 genotype	Age,y	Sex	Hb level, g/dL	TS, %	Ferritin level, μg/L	Nanograms of hepcidin per milligram of creatinine	Therapy	Interval from last phlebotomy	Reference no.
1	AVAQ homozygote	37	M	15.7	105	33	< 1	Phlebotomy	15 d	14
2	AVAQ homozygote	35	M	14.7	100	193	7	Phlebotomy	15 d	14
3	M172K homozygote^*	55	M	12	82	300	< 1	deferoxamine 1 g s.c. 2x weekly	NA	16
4	Y250X homozygote†	18	M	15.7	88	94	4	Phlebotomy	3 mo	12
5	Y250X homozygote	66	F	13.1	78	292	19	Phlebotomy	2 mo	13
6	Y250X homozygote	38	M	14.9	100	697	17	Phlebotomy	1 d	13
7a	Y250X homozygote†	3.5	M	11.9	70	45	57	—	NA	12
7b	Y250X homozygote†	3.5	M	ND	ND	ND	90	—	NA
8	E60X homozygote	42	M	15.7	78	623	15	Phlebotomy	3 y	13
9	E60X homozygote	48	F	12.5	82	159	46	Phlebotomy	3 y	13
10	E60X homozygote	46	F	13.0	83	23	8	—	NA	13
11	HJV homozygote^*	33	F	10.3	233	13	< 1	Phlebotomy	2 mo	3
12	AVAQ heterozygote	62	F	14.5	26	47	58	NA	NA	14
13	AVAQ heterozygote	67	M	16.8	34	66	82	NA	NA	14
14	AVAQ heterozygote	30	F	15.8	16	15	16	NA	NA	14
15	Control 1	23	M	16.6	ND	126	113	NA	NA
16	Control 2	25	M	15.6	ND	98	105	NA	NA
17	Control 3	3	M	11.4	ND	ND	49	NA	NA
18	Control 4	5	F	12	ND	ND	80	NA	NA

Normal values for adults are as follows: 20% to 40% TS, less than 200 μg/L ferritin for females and less than 300 μg/L ferritin for males, and 10 to 200 ng hepcidin per milligram of creatinine using the immunoassay described by Nemeth et al.¹²

Hb indicates hemoglobin; TS, transferrin saturation; phlebotomy, mantainance phlebotomy; ND, not done; NA, not applicable; and s.c., subcutaneously.

β thalassemia trait.

†

H63D heterozygote.

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