Table 1. Hematological Findings in 20... | American Society of Hematology

Table 1.

Hematological Findings in 20 Members of the Family

Subject	Hgb g/L	RBC × 10¹²/L	Hcrit%	WBC × 10⁹/L	Platelets × 10⁹/L	S-EPO mU/mL	EPOR Mutation
Affected
II11	178	5.9	57
II12	≈270	6.6		9.3	89
III15	≈245	7.2	73	5.7
III16	≈202	5.7	78	4.1
III17	195	6.0	55	4.2	137	4	+
III18	169	5.3	50	7.2	164	3	+
III19	160	6.7	51	3.6	209	7	+
IV7	172	5.5	50	9.7	116	6	+
IV8	178	5.6	52	7.4	140	3	+
IV11	173	5.2	51	7.9	215	4	+
V2	152	5.2	44			8	+
Unaffected
II2	154	4.5
II10	134
IV9	149	4.7	43	5.2	186	12	−
IV10	139	4.6	40	7.4	212	6	−
IV12	126	4.2	38	6.2	259	19	−
IV13	158	5.2	46	7.1	298	9	−
V1	135	4.9	40			18	−
V3	125	4.4	36	7.5	446	13	−
V4	118	4.2	33	6.4	283	12	−

Subject	Hgb g/L	RBC × 10¹²/L	Hcrit%	WBC × 10⁹/L	Platelets × 10⁹/L	S-EPO mU/mL	EPOR Mutation
Affected
II11	178	5.9	57
II12	≈270	6.6		9.3	89
III15	≈245	7.2	73	5.7
III16	≈202	5.7	78	4.1
III17	195	6.0	55	4.2	137	4	+
III18	169	5.3	50	7.2	164	3	+
III19	160	6.7	51	3.6	209	7	+
IV7	172	5.5	50	9.7	116	6	+
IV8	178	5.6	52	7.4	140	3	+
IV11	173	5.2	51	7.9	215	4	+
V2	152	5.2	44			8	+
Unaffected
II2	154	4.5
II10	134
IV9	149	4.7	43	5.2	186	12	−
IV10	139	4.6	40	7.4	212	6	−
IV12	126	4.2	38	6.2	259	19	−
IV13	158	5.2	46	7.1	298	9	−
V1	135	4.9	40			18	−
V3	125	4.4	36	7.5	446	13	−
V4	118	4.2	33	6.4	283	12	−

“Affected,” those with either clinical evidence of erythrocytosis or presence of an EPOR mutation or both. “Unaffected,” no clinical evidence of erythrocytosis or EPOR mutation. Normal hematological parameters are: hemoglobin (Hgb), males 122-166 g/L, females 113-153 g/L; red blood cell count (RBC), males 4.1-5.4 × 10¹²/L, females 3.7-4.9 × 10¹²/L; hematocrit (Hcrit), males 39% to 49%, females 37% to 44%; white blood cell count (WBC), 4.0-10.0 × 10⁹/L; platelets, 125-340 × 10⁹/L; S-EPO, 5-19 mU/mL.

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