Table 1 Hematologic parameters of... | American Society of Hematology

Table 1

Hematologic parameters of proband and family

									Hemoglobin typing			KLF1 allele
Case	Age	Hb (g/L)	Hct (%)	RCC (× 10¹²/L)	MCV (fL)	Retics (× 10⁹/L) (NR <100)	n-RBC/100 WBC	Bilirubin (μmol/L)	HbF (NR <1%)	HbA₂ (NR 2.3-3.3%)	Other	Allele 1	Allele 2
Proband	6 h	86	28	2.49	112	ND	3117	183	100%	<0.1	*	W30X	R319Efs34X
	6 mo	65	19	2.26	82	325	140	86	76%	<0.1	24%*
	12 mo	74	22	2.76	89	185	44	ND	50%	1.2%	HbA†
	4 y	64	21	2.22	94	270	72	ND	ND	ND	ND
Mother	24 y	120	38	4.38	86	ND	0	9	3.5	3.3	HbA	WT	R319Efs34X
Father	25 y	164	48	5.57	86	ND	0	ND	2.4	3.0	HbA	W30X	WT

									Hemoglobin typing			KLF1 allele
Case	Age	Hb (g/L)	Hct (%)	RCC (× 10¹²/L)	MCV (fL)	Retics (× 10⁹/L) (NR <100)	n-RBC/100 WBC	Bilirubin (μmol/L)	HbF (NR <1%)	HbA₂ (NR 2.3-3.3%)	Other	Allele 1	Allele 2
Proband	6 h	86	28	2.49	112	ND	3117	183	100%	<0.1	*	W30X	R319Efs34X
	6 mo	65	19	2.26	82	325	140	86	76%	<0.1	24%*
	12 mo	74	22	2.76	89	185	44	ND	50%	1.2%	HbA†
	4 y	64	21	2.22	94	270	72	ND	ND	ND	ND
Mother	24 y	120	38	4.38	86	ND	0	9	3.5	3.3	HbA	WT	R319Efs34X
Father	25 y	164	48	5.57	86	ND	0	ND	2.4	3.0	HbA	W30X	WT

n-RBC, nucleated red blood cell; ND, not determined; NR, normalized ratio; WBC, white blood cell.

A very fast eluting band was detectable at all of these time points.

HbA was increased because of transfusion.