Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families

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 (10^9/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.

55

Yes

No

Yes (21)

Yes

13%

Yes

11

108

36.5

166

939

H63D/wt

This study

AII.

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.

Birth

Yes

No

No

—

22%

Yes

10.8

66.4

36.2

423

321

n.a.

associated with -thalassemia trait; associated with heterozygote PK deficiency.
associated with hereditary high phosphatidylcholine haemolytic anaemia (HHPCHA).
n.a. = not available.