Table 3 Laboratory workup of EB patients (all ages)

Anemia

Haemoblobin (g/dl)

12.6 (9.2–14.9) ± 1.3

10.9 (5.5–17.4) ± 3.5

10.4 (5.3–14.3) ± 1.9

Reticulocytes (%)

0.6 (0.4–1.4) ± 0.6

1.4 (0.8–2.5) ± 0.6

1.7 (0.8–12.8) ± 2.6

Serum iron (mcg/dl)

56 (18–109) ± 27

43 (12–48) ± 17

19.5 (5–477) ± 68

Ferritin (ng/ml)

29 (18–74) ± 19

14 (8–48) ± 16

22 (4–1039) ± 210

Hyperferritinemia no. (%)

0

0

4 (3.7%)

Transferrin (mg/dl)

271 (244–315) ± 28

270 (215–287) ± 29

234 (92–421) ± 73

Inflammation

White blood cells (cells/mm3 *10³)

9.02 (4.54–11.83) ± 2.31

10.2 (8.74–13.81) ± 2.11

10.01 (3.95–16.67) ± 3.03

Neutrophils (%)

44 (35–73) ± 13

64 (51–66) ± 6.9

58.3 (1.5–81.3) ± 18.1

CRP (mg/dl)

0.15 (0.05–3.05) ± 1.19

2.13 (2.03–4.15) ± 1.19

3.2 (0.05–15.81) ± 4.23

ESR (mm/h)

8 (6–26) ± 8.3

35 (14–119) ± 56

36 (5–90) ± 25

IgA (mg/dl)

166 (66–214) ± 71.8

431 (156–988) ± 325

316 (5–831) ± 214

IgG (mg/dl)

1013 (731–1550) ± 344

1313 (1104–1766) ± 325

2056 (616–6564) ± 1484

IgM (mg/dl)

81 (42–128) ± 35

93 (70–127) ± 21

127 (37–491) ± 87

Nutritional state

Glicemia (mg/dl)

81 (78–98) ± 6.9

88 (57–97) ± 16

84 (68–108) ± 10.5

Blood protein (g/dl)

6.8 (6.2–8) ± 0.6

7.3 (7–7.7)

7.7 (6.4–10.8) ± 0.99

Albumin (g/dl)

4.4 (4.1–4.7) ± 0.2

4.1 (3.4–4.3) ± 0.4

3.8 (2.07–4.6) ± 0.57

Pre-albumin (mg/dl)

17 (15–17) ± 1.2

17 (15–23) ± 4.2

12 (1.1–20) ± 4.3

RBP (mg/dl)

2.3 (1.7–2.6) ± 0.5

3.6 (2.39–3.6) ± 0.69

1.86 (1.17–2.88) ± 0.47

Total cholesterol (mg/dl)

138 (119–182) ± 24

168 (122–187) ± 24

129 (67–216) ± 27

Triglycerides (mg/dl)

49 (40–73) ± 12

80 (79–117) ± 20

73 (41–235) ± 38

Vitamin A (µmol/l)

1.3 (1.22–1.94) ±0.39

1.3 (1–3.9) ± 1.6

1.1 (0.4–2.7) ± 0.59

Vitamin D (ng/ml)

25 (19–31.1) ± 5.8

19.5 (10.8–27.2) ± 7.4

14.2 (3.7–60) ± 14.2

Vitamin E (µmol/l)

51.2 (33.3–53.9) ± 11.2

36.6 (29.2–100.5) ± 39.2

57.4 (24.9–105.3) ± 21.9

Vitamin B12 (pg/ml)

632 (452–1225) ± 404

457 (261–545) ± 145

654 (173–1586) ± 337

Folati (ng/ml)

6 (4–7.2) ± 1.6

7.4 (6–20.9) ± 8.3

7 (2.2–58) ± 14.8

Vitamin B6 (µmol/l)

60.5 (41.1–69.8) ± 14.6

15 (15–31) ± 9.2

39.9 (10–212) ± 52

Renal function

Azotemia (mg/dl)

14 (12–17) ± 1.7

12 (11–33) ± 9.8

14 (12–17) ± 1.7

Creatinine (mg/dl)

0.47 (0.22–0.7) ± 0.16

0.62 (0.19–0.7) ± 0.21

0.35 (0.15–1.28) ± 0.23

Uric acid (mg/dl)

3.6 (2.5–3.9) ± 0.57

4.2 (3.9–19) ± 6.6

3.6 (2.5–3.9) ± 0.57

Liver function

AST (IU/l)

28 (24–39) ± 5.4

24 (14–33) ± 7.7

22 (10–90) ± 12

ALT (IU/l)

15 (13–25) ± 4.7

10 (8–25) ± 8

10 (5–46) ± 7.6

GGT (IU/l)

8.5 (6–14) ± 2.7

12 (11–14) ± 1.5

8 (4–915) ± 137

Bilirubin (mg/dl)

0.41 (0.26–0.5) ± 0.09

0.4 (0.19–1.27) ± 0.43

0.25 (0.14–0.74) ± 0.14

Alkaline phosphatase (U/L)

428 (381–454) ± 31

171 (61–497) ± 178

282 (98–639) ± 147

Coagulation

Platelets (cells/mm3*10³)

284 (202–327) ± 45

291 (241–486) ± 99

452 (55–1183) ± 188

Fibrinogen (mg/dl)

303 (239–366) ± 64

462 (368–511) ± 72.7

466 (275–731) ± 109

PT (s)

13.3 (12.4–13.5) ± 0.59

10 (10–12.9) ± 1.67

13.9 (12.1–17.6) ± 1.23

aPTT (s)

31.3 (26.8–32.0) ± 2.82

29.8 (28.9–30.3) ± 0.71

35.2 (27.8–45.7) ± 4.22

Electrolytes

Sodium (mmol/l)

139 (136–143) ± 2.4

139 (136–141) ± 1.9

138 (130–143) ± 2.8

Potassium (mmol/l)

4.6 (4.07–4.94) ± 0.28

4.6 (4.2–4.7) ± 0.18

4.39 (3.5–5.4) ± 0.41

Chlorine (mmol/l)

106 (101–108) ± 2.7

103 (100–106) ± 4.2

103 (98–111) ± 2.9

Calcium (mg/dl)

9.8 (9.2–10) ± 0.3

9.3 (8.8–9.7) ± 0.38

9.2 (2.08–10) ± 1.17

Magnesium (mg/dl)

2.18 (2.02–2.22) ± 0.08

2 (1.85–2.07) ± 0.08

2.1 (0.75–3.94) ± 0.4

Phosphate (mg/dl)

5.05 (4.4–5.3) ± 0.39

3.6 (3.3–5.4) ± 0.98

4.55 (1.17–6.3) ± 0.89

Hormones

PTH (pg/ml)

25 (21–29) ± 4

54 (36–63) ± 13.7

30 (8 -1285) ± 233

TSH (U/ml)

2.85 (2.51–3.84) ± 0.59

1.22 (0.91–2.3) ± 0.73

2.03 (0.72–5.12) ± 1.25

FT4 (ng/dl)

1.16 (1.07–1.23) ± 0.08

1.31 (1.22–2.69) ± 0.82

1.12 (0.79–1.66) ± 0.21

Other

Amylase (U/L)

66 (56–96) ± 20.8

55 (30 -139) ± 43

64 (24–670) ± 113

Copper (µr/dl)

82 (9–95) ± 8.3

96 (88–169) ± 38.3

107 (9.7–156) ± 32