Table 1 Hematological, biochemical and genetic data of reported cases.

From: The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation

Subject

1

2

3

4

5

6

7

Reference values

Sex

F

M

F

F

M

F

M

–

Age (years)

(I) 29

(I) 18

(I) 38

(I) ?

(I) ?

(I) ?

(I) 21

–

(II) 61

(II) 21

(II) 43

(II) 84

(II) 64 (†)

(II) 85

(II) 30

–

Hb (g/dL)

(I) 10.5–11.5

(I) 12.2

(I) 10.4

(I) 11

(I) 8.8

(I) 9.8

(I) 9.0

12–15.6

(II) 9.5

(II) 12.5

(II) 9.4

(II) 11

(II) 10.4

(II) 7.5

(II) 8.1

MCV (fL)

(I) 105–110

(I) 64.3

(I) 102.2

(I) n.a

(I) 69.8

(I) n.a

(I) 59

80–99

(II) 116.9

(II) 67.5

(II) 87.7

(II) n.a

(II) 79.4

(II) 105.6

(II) 54

Ring sideroblasts (%)

(I) 26

(I) 55 (2020)

(I) 47 (2014)

(I) 20

(I) 25

(I) 35

(I) n.a

< 10–15

MCH (pg)

(I) n.a

(I) 20.3

(I) 35.7

(I) n.a

(I) n.a

(I) n.a

(I) n.a

27–33.5

(II) 37.6

(II) 21.1

(II) 29.1

(II) n.a

(II) 27.1

(II) 34.8

(II) n.a

MCHC (g/dL)

(I) n.a

(I) 31.6

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) 30.5

31.5–36

(II) 32.2

(II) 31.4

(II) n.a

(II) n.a

(II) 34.1

(II) 34.4

(II) 27.2

RDW (%)

(I) 15

(I) 28.5

(I) 13.7

(I) n.a

(I) n.a

(I) n.a

(I) 30.0

11.5–14.7

(II) 16.2

(II) 27

(II) n.a

(II) n.a

(II) 18.1

(II) 19.1

(II) 35.9

Hematocrit (%)

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) 29

(I) n.a

(I) 30.0

35.5–45.5

(II) 29.6

(II) 39.9

(II) 28.3

(II) n.a

(II) 30.5

(II) 23

(II) 30

Erythrocytes (× 106/uL)

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) 4.0

(I) n.a

(I) 5.0

3.9–5.2 × 106

(II) 2.54 × 106

(II) 5.93

(II) 3.23

(II) n.a

(II) 3.84

(II) 2.44

(II) 5.5

Erythropoietin (mUI/L)

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) 52

(I) 38

(I) n.a

5.45–28.35

(II) 158.94

(II) n.a

(II) n.a

(II) n.a

(II) 52

(II) 115

(II) n.a

Ferritin (ng/mL)

(I) n.a

(I) 298

(I) 125

(I) n.a

(I)

(I)

(I)

30–300

(II) 176

(II) 301

(II) 105

(II) n.a

(II) 3435

(II) 610.6

(II) 593

Transferrin (mg/dL)

(I) n.a

(I) 72

(I) n.a

(I) n.a

(I) n.a

(I) 350

(I) n.a

250–380

(II) 194

(II) 212

(II) 211

(II) n.a

(II) 127

(II) 213

(II) n.a

TF sat (%)

(I) n.a

(I) n.a

(I) 57

(I) n.a

(I) n.a

(I) n.a

(I) n.a

15–50

(II) 89

(II) 44

(II) 91

(II) n.a

(II) n.a

(II) 85

(II) n.a

Iron (ug/dL)

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) n.a

50–170

(II) 243

(II) 129

(II) 264

(II) n.a

(II) 96

(II) 256

(II) 234.55

Iron transport total capacity (ug/dL)

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) n.a

(I) n.a

274–497

(II) 274

(II) 293

(II) 291

(II) n.a

(II) n.a

(II) n.a

(II) n.a

ALAS2 Mutation

c.1115 T > C; = 

c.1354 C > T; 0

c.506 A > T; = 

c.1762 T > C; = 

c.1559 C > T; 0

c.1328 G > A; = 

c.497A > T; 0

–

ALAS2 AA Change

p.Ile372Thr; = 

p.Arg452Cys; 0

p.Asn169Ile; = 

p.Ter588ArgextTer120; = 

p.Pro520Leu; 0

p.Gly443Asp; = 

p.Lys166Met; 0

–

  1. F female, M male, I at diagnosis, II last visit available. † deceased. Hb hemoglobin, MCV mean corpuscular volume, MCH mean corpuscular hemoglobin, MCHC mean corpuscular hemoglobin concentration, RDW red blood cell distribution width, TF sat: transferrin saturation.
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