Table 4 Hematological data and existence of genetic modifiers identified among 3 β⁰/β⁰ TI patients

Age/Age at diagnosis (years)

7/2

5/3

19/12

Age of 1^st Transfusion (years)/frequency

4/1 time every 7 months

4/1 time every 6 months

17/only 1 time

Hepatosplenomegaly¹

mild

2/2(cm)

0.5/8(cm)

RBC(10¹²/L)

3.64

3.51

5.32

Hb (g/L)

74

81

99

MCV (fL)

70

77

59

MCH (pg)

20.3

23.0

18.6

MCHC (g/L)

289

298

313

HbF (%)

96.4

59.0

97.3

HbA₂ (%)

2.1

2.7

2.7

β-globin genotype¹

CD 17 (A→T)/IVS-2-654 (C→T)

IVS-1-1 (G→T)/CD 41-42 (-CTTT)

CD 17(A→T)/CD17 (A→T)

Xmn I

+/-

+/-

-/-

β-540

(AT)7(T)5/(AT)8(T)5

(AT)7(T)7/(AT)8(T)5

(AT)7(T)5/(AT)7(T)5

5' HS2

(AT)9(N)12(AT)10/(AT)8(N)12(AT)10

(AT)9(N)12(AT)10/(AT)8(N)12(AT)10

(AT)9(N)12(AT)11/(AT)8(N)12(AT)11