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. 2010 Jul 5;2010:479282. doi: 10.4061/2010/479282

Table 2.

Beta-thalassemia genotypes among 127 transfusion-dependent thalassemic patients enrolled in the current study.

Genotype Number (%)
Homozygous

1 IVSII.1 (G > A)/IVSII.1 (G > A) 24 (18.9)
2 IVSI.1 (G > A)/IVSI.1 (G > A) 10 (7.9)
3 Codon 8 (−AA)/Codon 8 (−AA) 8 (6.3)
4 Codon 39 (C > T)/Codon 39 (C > T) 8 (6.3)
5 Codon 44 (−C)/Codon 44 (−C) 7 (5.5)
6 Codon 8/9 (+G)/Codon 8/9 (+G) 3 (2.4)
7 Codon 5 (−CT)/Codon 5 (−CT) 3 (2.4)
8 IVSI-110 (G > A)/IVSI.110 (G > A) 1 (0.8)
9 IVSI.5 (G > C)/IVSI.5 (G > C) 1 (0.8)
10 Codon 36/37 (−T)/Codon 36/37 (−T) 1 (0.8)

Compound Heterozygous

11 IVSII.1 (G > A)/IVSI.1 (G > A) 9 (7.1)
12 IVSI.1 (G > A)/Codon 8/9 (+G) 7 (5.5)
13 IVSI.1 (G > A)/IVSI.6 (T > C) 3 (2.4)
14 IVSII.1 (G > A)/Codon 8/9 (+G) 3 (2.4)
15 IVSII.1 (G > A)/Codon 8 (−AA) 3 (2.4)
16 Codon 8/9 (+G)/Codon 5 (−CT) 3 (2.4)
17 Codon 44 (−C)/codon 5 (−CT) 3 (2.4)
18 IVSI.1 (G > A)/Codon 8 (−AA) 2 (1.6)
19 IVSII.1 (G > A)/Codon 39 (C > T) 2 (1.6)
20 IVSII.1 (G > A)/Codon 5 (−CT) 2 (1.6)
21 Codon 39 (C > T)/codon 44 (−C) 2 (1.6)
22 IVSII.1 (G > A)/IVSI.6 (T > C) 2 (1.6)
23 IVS.I.5 (G > C)/codon 8/9 (+G) 2 (1.6)
24 IVSII.1 (G > A)/IVSI.110 (G > A) 1 (0.8)
25 Codon 5 (−CT)/Codon 8 (−AA) 1 (0.8)
26 IVSI.1 (G > A)/Codon 39 (C > T) 1 (0.8)
27 IVSII.1 (G > A)/IVSII.745 (C > G) 1 (0.8)
28 IVSI.1 (G > A)/codon 22 (−7 bp) 1 (0.8)
29 IVSII.1 (G > A)/codon 30 (G > C) 1 (0.8)
30 IVSI.5 (G > C)/codon 8 (−AA) 1 (0.8)
31 IVSI.5 (G > C)/codon 44 (−C) 1 (0.8)
32 Codon 39 (C > T)/codon 5 (−CT) 1 (0.8)
33 Codon 39(C > T)/Codon 8/9 (+G) 1 (0.8)
34 Codon 44 (−C)/codon 8/9 (+G) 1 (0.8)
35 IVSI.1/Uncharacterized 2 (1.6)
36 IVS1.6/Uncharacterized 1 (0.8)
37 IVSII.1/Uncharacterized 1 (0.8)
38 Uncharacterized/Uncharacterized 3 (2.4)

Total 127 (100)