Table 2.

Patients reported in literature with mutation p.E2496ELE in PIEZO1 gene.

Reference	Case	Age at diagnosis	Family history	Perinatal edema	Splenectomy (age)	Thrombotic events	Stomatocytes	Typical HX ektacytometry	Hb (g/dL)	MCV (fL)	MCHC (%)	Retics (109/L)	Ferritin (ng/mL)	HFE
[11]	K1	16	No	No	n.a.	n.a.	n.a.	Yes	10.3	102.8	32.5	136	n.a.	n.a.
[11]	K2	15	n.a.	n.a.	n.a.	n.a.	n.a.	Yes	14.4	98.5	36	202	n.a.	n.a.
[11]	K3	11	Yes	n.a.	n.a.	n.a.	n.a.	Yes	11.3	91.9	37.3	275	n.a.	n.a.
[11]	K5	21	Yes	No	n.a.	n.a.	n.a.	Yes	12.7	98.9	37.5	256	n.a.	n.a.
[11]	K6	18	Yes	No	n.a.	n.a.	n.a.	Yes	12.5	102.5	36	378	n.a.	n.a.
[11]	K7	42	Yes	n.a.	n.a.	n.a.	n.a.	Yes	12.6	108.6	36.5	290	n.a.	n.a.
[11]	F2	30	Yes	Yes	No	—	n.a.	Yes	9.4	99.1	n.a.	182	n.a.	n.a.
[11]	F3	26	Yes	No	Yes (27)	Yes	5%	Yes	13.9	120	33.8	220	2910	n.a.
[17]	Daughter #	50	Yes	No	Yes (38)	No	Yes	n.a.	7.9	133.9	n.a.	3.9%	4315	wt
[17]	Son #	41	Yes	No	No	—	Yes	n.a.	6.6	101.1	n.a.	4.9%	4350	wt
This study	AII.1$	55	Yes	No	Yes (21)	Yes	13%	Yes	11	108	36.5	166	939	H63D/wt
This study	AII.2$	50	Yes	No	No	—	15%	Yes	13	103	37.8	273	1571	H63D/wt
This study	BII.1	23	Yes	No	Yes (23)	No	33%	Yes	12	100	38	198	356	wt
This study	BIII.1∗	Birth	Yes	No	No	—	22%	Yes	10.8	66.4	36.2	423	321	n.a.

 ^∗HX associated with β-thalassemia trait; ^$HX associated with heterozygote PK deficiency.

 ^#HX associated with hereditary high phosphatidylcholine haemolytic anaemia (HHPCHA).

n.a. = not available.