Skip to main content

Table 2 The molecular, hematological and clinical data of 117 thalassemia intermedia (TI) patients

From: The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity

 

Molecular data

Hematological data (Mean ± SD)

Clinical data

 

β-globin genotype

α-globin genotype

No.

XmnI 1

Hb (g/L)

MCV (fL)

MCH (pg)

HbA2 (%)

HbF (%)

Transfusion T:NT:NA2

Splenectomy S:NS:NH:NA3

Age at diagnosis4

I

β+/β+

Normal

9

0:0:9:0

78.8 ± 10.6

65.0 ± 4.4

21.2 ± 1.7

4.7 ± 1.5

58.2 ± 9.8

2:5:2

2:5:0:2

2.8 ± 0.8(7)

 

β+/β0

Normal

32

1:4:26:1

74.4 ± 10.0

70.0 ± 9.8

20.9 ± 2.5

4.2 ± 1.5

53.8 ± 26.9

20:10:2

9:16:5:2

5.1 ± 5.4(30)

 

β0/β0

Normal

3

0:2:1:0

84.7 ± 12.9

68.7 ± 9.1

20.6 ± 2.2

2.5 ± 0.3

84.2 ± 21.9

3:0:0

0:3:0:0

5.7 ± 5.5(3)

 

Total

 

44

1:6:36:1

76.0 ± 10.5

68.9 ± 9.0

20.9 ± 2.3

4.2 ± 1.6

56.8 ± 24.9

25:15:4

11:24:5:4

4.8 ± 4.9(40)

 

β 0 /HbE

Normal

27

0:11:13:3

72.2 ± 11.5

62.6 ± 7.7

18.7 ± 2.4

57.0 ± 9.6 5

34.1 ± 11.4

10:15:2

9:9:7:2

4.5 ± 3.3(25)

 

β+/β+

α Thal6

1

0:0:1:0

73

74

24.5

3.3

50.9

0:1:0

0:0:1:0

15

 

β+/β+

Triplication

1

0:0:1:0

76

76.2

27.3

3.4

65.2

1:0:0

0:0:1:0

NA

 

β+/β0

α Thal6

6

0:2:4:0

78.8 ± 16.2

60.3 ± 6.1

19.4 ± 2.4

5.25 ± 1.8

73.1 ± 6.8

3:3:0

2:1:3:0

3.9 ± 1.4

 

β0/β0

α Thal6

7

0:5:1:1

80.0 ± 11.8

67.1 ± 9.4

20.7 ± 2.4

4.1 ± 1.0

87.4 ± 21.7

2:5:0

1:2:4:0

6.3 ± 5.1(6)

 

Total

 

15

0:7:7:1

78.8 ± 12.5

65.5 ± 8.8

20.9 ± 3.1

4.4 ± 1.4

77.8 ± 18.4

6:9:0

3:3:9:0

5.9 ± 4.5(13)

 

β0/HPFH

Normal

7

0:4:2:1

78.9 ± 11.2

64.1 ± 5.0

20.2 ± 1.6

3.2 ± 1.5

96.8 ± 1.5

2:5:0

0:5:1:1

4.1 ± 1.5(5)

 

β0/δβ

Normal

2

0:0:2:0

77.0 ± 1.4

75.4 ± 7.6

21.4 ± 0.6

0.6 ± 0.1

99.4 ± 0.1

2:0:0

0:2:0:0

NA

 

β0orβ+/δβ

α Thal6

2

0:0:1:1

74.0 ± 1.4

63.4 ± 4.0

19.5 ± 2.0

3.2 ± 1.1

76.3 ± 0.1

0:2:0

0:2:0:0

2.3 ± 0.4

 

Total

 

11

0:4:5:2

77.6 ± 8.9

66.0 ± 6.6

20.3 ± 1.5

2.7 ± 1.6

93.5 ± 8.7

4:7:0

0:9:1:1

3.6 ± 1.5(7)

II

β+/βN

Normal

1

0:0:1:0

89

64

21.9

5.5

2.1

0:1:0

0:0:1:0

10

 

β0/βN

Normal

13

0:1:8:4

84.2 ± 9.6

57.3 ± 7.6

18.4 ± 2.1

5.0 ± 1.2

4.9 ± 3.6

1:12:0

0:5:8:0

7.3 ± 5.3(10)

 

Total

 

14

0:1:9:4

84.5 ± 9.3

57.8 ± 7.5

18.7 ± 2.2

5.0 ± 1.2

4.7 ± 3.6

1:13:0

0:5:9:0

7.5 ± 5.1(11)

 

β0/βN

Triplication

5

0:0:5:0

90.2 ± 14.2

60.0 ± 5.1

17.9 ± 1.2

6.0 ± 0.7

0.5 ± 1.0

0:4:1

0:0:5:0

12.3 ± 3.5(4)

 

βdominant/βN

Normal

1

0:1:0:0

99

65.3

18.8

5.19

10.4

0:1:0

0:1:0:0

16

  1. I: Type I TI (97,82.9%), II: Type II TI (20,17.1%). 1number of patients whose XmnI site were +/+:+/-:-/-:NA(NA, not available); 2number of patients in transfusion (T, transfusion; NT, not transfusion; NA, not available). 3number of patients with splenectomy (S, splenectomy; NS, hepatosplenomegaly but not splenectomy; NH, not hepatosplenomegaly; NA, not available). These three groups of data were described based on the patient's numbers, which were recorded by genotyping of Xmn1 polymorphism (Xmn1) or by positive scoring of recruited patients in clinical data collection (transfusion and splenectomy). The total number of each for these three groups of data should be equal to the number of patients in third colomn of this table. 4 Mean ± SD of age at diagnosis (years); numbers in brackets indicate the number of patients. 5 Including HbA2 and HbE. 6Including -α3.7,-α4.2,--SEA and αCS