Table 1. Clinical and laboratory data of... | American Society of Hematology

Table 1.

Clinical and laboratory data of the patients with idiopathic erythrocytosis and PIEZO1 pathogenic variants

Patient	Sex	PIEZO1 variant	RCM, %	MCV, fL	Hb, g/L	P50, mm Hg	MCHC, %	Reticulo-cytes, G/L	Ferritinemia, µg/L	Transferrin saturation, %	Haptoglobin, g/L	Serum bilirubin, µmol/L	Spleno-megaly
Normal laboratory ranges/results	—	—	—	—	120-160 (F)	25-27	32-35	20-80	18-160 (F)	15-35 (F)	0.3-2	<17	—
					130-170 (M)				18-270 (M)	20-40 (M)
1	M	Arg2110Trp	119	87	192	22.4	36.3	119	120	NA	>0.6	Between 50-80	No
2	M	Thr2127Met	117	U	186	22	35.6	224	474	32	<0.1	13	Yes
3	F	Ala2020Thr	U	97	161	U	33.8	323	1274	66	0.3	230	U
4	M	Ile2462Met	123*	83.6	184	24.3	36.9	163	1674	40	0.62	19	U
5	M	Val1223Ile	U	86.6	174	26.7	37	213	781	70	0.09	31	Yes

Patient	Sex	PIEZO1 variant	RCM, %	MCV, fL	Hb, g/L	P50, mm Hg	MCHC, %	Reticulo-cytes, G/L	Ferritinemia, µg/L	Transferrin saturation, %	Haptoglobin, g/L	Serum bilirubin, µmol/L	Spleno-megaly
Normal laboratory ranges/results	—	—	—	—	120-160 (F)	25-27	32-35	20-80	18-160 (F)	15-35 (F)	0.3-2	<17	—
					130-170 (M)				18-270 (M)	20-40 (M)
1	M	Arg2110Trp	119	87	192	22.4	36.3	119	120	NA	>0.6	Between 50-80	No
2	M	Thr2127Met	117	U	186	22	35.6	224	474	32	<0.1	13	Yes
3	F	Ala2020Thr	U	97	161	U	33.8	323	1274	66	0.3	230	U
4	M	Ile2462Met	123*	83.6	184	24.3	36.9	163	1674	40	0.62	19	U
5	M	Val1223Ile	U	86.6	174	26.7	37	213	781	70	0.09	31	Yes

No patient received a transfusion.

F, female; M, male; MCV, mean corpuscular volume; NA, not available; RCM, red cell mass; U, unknown.

RCM was determined after 3 phlebotomies.