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

Table 1.

Essential clinical and laboratory data in the 3 families (A-C) and 6 sporadic patients with CDA type I

Patient/sex	Year of birth	Hb, g/L	MCV, fL	Retics, % or 10⁹/L	Bilirubin, mM	sTK, U/L	sTfR, U/L	Ferritin, ng/mL	Genotype
A1/F	1944	90	109	—	46	—	—	1341	R1041W homozygote
A2/M	1956	112	98	5.0%	32	99	9.1	812	R1041W homozygote
A3*/M	1967	140	95	—	—	17	12.8	—	R1041W homozygote
A4/M	1979	124	101	—	15	179	13.7	650	R1041W homozygote
A5/F	1987	107	93	2.3%	39	111	14	359	R1041W homozygote
A6/F	1992	121	97	—	—	130	12.4	—	R1041W homozygote
A7/M	1946	116	100	—	—	92	12.2	—	R1041W homozygote
A8/F	1950	97	97	—	—	161	11.6	—	R1041W homozygote
A9/M	1986	100	97	—	—	86	12.5	—	R1041W homozygote
B3/F	1960	79	103	67	42	187	59.7	1184	R1041W homozygote
B7/M	1974	88	105	54	110	222	57.1	1592	R1041W homozygote
C3/F	1980	103	97	106	—	78	25.2	232	WT/WT
C5/F	1973	77	95	61	63	88	43.5	260	WT/WT
E/M	1929	112	104	27	77	44	35.2	766	D1042/WT
F/M	1953	120	102	73	38	117	42.6	735	P671L/WT
G/F	1950	82	104	15	27	—	11.4	1755	N598S/R724W
H/M	1950	99	99	146	34	144	60.9	1190	DeIV372/WT
I/M	1977	110	92	93	32	167	59.6	382	WT/WT
J/F	1927	105	111	43	25	—	33.1	766	P671L/WT

Patient/sex	Year of birth	Hb, g/L	MCV, fL	Retics, % or 10⁹/L	Bilirubin, mM	sTK, U/L	sTfR, U/L	Ferritin, ng/mL	Genotype
A1/F	1944	90	109	—	46	—	—	1341	R1041W homozygote
A2/M	1956	112	98	5.0%	32	99	9.1	812	R1041W homozygote
A3*/M	1967	140	95	—	—	17	12.8	—	R1041W homozygote
A4/M	1979	124	101	—	15	179	13.7	650	R1041W homozygote
A5/F	1987	107	93	2.3%	39	111	14	359	R1041W homozygote
A6/F	1992	121	97	—	—	130	12.4	—	R1041W homozygote
A7/M	1946	116	100	—	—	92	12.2	—	R1041W homozygote
A8/F	1950	97	97	—	—	161	11.6	—	R1041W homozygote
A9/M	1986	100	97	—	—	86	12.5	—	R1041W homozygote
B3/F	1960	79	103	67	42	187	59.7	1184	R1041W homozygote
B7/M	1974	88	105	54	110	222	57.1	1592	R1041W homozygote
C3/F	1980	103	97	106	—	78	25.2	232	WT/WT
C5/F	1973	77	95	61	63	88	43.5	260	WT/WT
E/M	1929	112	104	27	77	44	35.2	766	D1042/WT
F/M	1953	120	102	73	38	117	42.6	735	P671L/WT
G/F	1950	82	104	15	27	—	11.4	1755	N598S/R724W
H/M	1950	99	99	146	34	144	60.9	1190	DeIV372/WT
I/M	1977	110	92	93	32	167	59.6	382	WT/WT
J/F	1927	105	111	43	25	—	33.1	766	P671L/WT

M indicates male; F, female; Hb, hemoglobin; sTK, serum thymidine kinase; sTfR, serum transferrin receptor; Retics, reticulocytes; and —, not done. Reference ranges: retics, 0.5%-3.8% (20-130 × 10⁹/L); bilirubin, < 17 mM; sTK, 4.2-6.6 U/L; sTfR, 2.3-8.4 U/L; and ferritin, 22-402 ng/mL.

patient on interferon therapy.

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