Table 1 Haematological, biochemical, molecular data of the patient and his parents

Age/sex

4D

3/M

31Y

31Y

WBC

6.1

7

6.61

6.14

4–10 * 10⁹/L

RBC

2.12

2.46

4.99

4.49

3–5 * 10⁹/L

NEUT%

55.2

45.3

44

45

5–50%

LYMPH%

45.8

47.7

66

65

30–80%

HGB

129

64

146

128

100–145 * 10⁹/L

HCT

39.2

20.1

44.5

40.4

37–50%

MCV

118.8

81.7

89

89.9

80-90 fl

MCH

39.1

26

29.2

28.5

23-30 pg

MCHC

329

318

328

317

304–360 g/L

IRF

55.7

54.5

56

55

RET%

2.48

7.48

0.8

1.3

0.5–1.5%

RET#

0.191

0.184

0.08

0.09

0.024–0.084 * 10¹²/L

PLT

306

184

321

341

150–540 * 10⁹/L

Biochemical

ALT

35

31

0–49 U/L

AST

29

44

0–40 U/L

TB

516

31.7

5–20 umol/L

DBIL

32

12.6

0–6.8 umol/L

IDIL

484

19.1

0–17 umol/L

LDH

461

477

120–250 U/L

ALP

276

282

125–250 U/L

G6PD

2745u/gHG

SI

22.47

11–30 umol/L

Tf

2.66

2.1–3.6 g/L

TIBC

57.9

44–69 umol/L

TS

39

20–55%

VitB12

176

18–670 pmol/L

FOL

> 54

> 12.2 nmol/L

SF

497.9

22–322 ng/mL

AK (200–250 IU/gHb)

184

202

209

200–250 IU/gHb

PK (5–15 IU/gHb)

6

9

11

5–15 IU/gHb

P5′N ratio(2.5–4)

3.1

3.5

2.8

2.5–4

Other

Osmotic fragility of RBC

Neg

Coombs test

Neg

Thalassaemia test

Neg

Chinese Wechsler Young Children scale of Intelligence (C-WYCSI)

Language test

60

Operation test

52

Full scale intelligence quotient

52

Intelligence quotient

52