Table 1. Relevant clinical and... | American Society of Hematology

Table 1.

Relevant clinical and laboratory data of the proband (at different ages) and parents

	Father, I-1	Mother, I-2			Proband, II-1
Age	35 y	32 y	Birth	2 mo	3 mo	6 mo	1 y	3 y	5 y	2-3 y
Body weight, percentile	NA	NA	< 3rd	3rd	5th	10th	15th	15th	25th	NA
Hb, g/L	149	128	40	74	76	82	98	90	85	130 (120-150)
MCV, fL	84	79.6	71	75	69	50	50	48	51	80
MCH, pg	28.8	27	14	14	15	15.3	14	13.5	15	26
Serum ion, μM	14.3	12.9	ND	29.7	28.6	30.4	26.5	34.7	36.5	14.3 (10.6-21.5)
Transferrin saturation, %	28	35	ND	85	100	80	63	80	90	7-30
Ferritin, μg/L	110	133	ND	256	864	110	70	26	34	7-140
FEP, μg/g Hb	ND	ND	ND	4.7	ND	ND	ND	ND	5.3	< 3
Treatment	None	None	18 mL PRBCs	25 mL PRBCs	30 mL PRBCs	sc rEpo	sc rEpo	sc rEpo	sc rEpo	NA

	Father, I-1	Mother, I-2			Proband, II-1
Age	35 y	32 y	Birth	2 mo	3 mo	6 mo	1 y	3 y	5 y	2-3 y
Body weight, percentile	NA	NA	< 3rd	3rd	5th	10th	15th	15th	25th	NA
Hb, g/L	149	128	40	74	76	82	98	90	85	130 (120-150)
MCV, fL	84	79.6	71	75	69	50	50	48	51	80
MCH, pg	28.8	27	14	14	15	15.3	14	13.5	15	26
Serum ion, μM	14.3	12.9	ND	29.7	28.6	30.4	26.5	34.7	36.5	14.3 (10.6-21.5)
Transferrin saturation, %	28	35	ND	85	100	80	63	80	90	7-30
Ferritin, μg/L	110	133	ND	256	864	110	70	26	34	7-140
FEP, μg/g Hb	ND	ND	ND	4.7	ND	ND	ND	ND	5.3	< 3
Treatment	None	None	18 mL PRBCs	25 mL PRBCs	30 mL PRBCs	sc rEpo	sc rEpo	sc rEpo	sc rEpo	NA

FEP indicates free erythrocyte protoporphyrin; NA, not applicable; ND, not detected; PRBCs, packed red blood cells; sc rEpo, recombinant erythropoietin at a starting dose of 800 IU/kg subcutaneously twice a week (see “Patient” for details).

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