𝜷-Thalassemia Mutations among Transfusion-Dependent Thalassemia Major Patients in Northern Iraq

Table 2

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

	Genotype	Number (%)
	Homozygous
1	IVSII.1 ($\text{G}>A$)/IVSII.1 ($\text{G}>A$)	24 (18.9)
2	IVSI.1 ($\text{G}>A$)/IVSI.1 ($\text{G}>A$)	10 (7.9)
3	Codon 8 ($-\text{AA}$)/Codon 8 ($-\text{AA}$)	8 (6.3)
4	Codon 39 ($\text{C}>T$)/Codon 39 ($\text{C}>T$)	8 (6.3)
5	Codon 44 ($-\text{C}$)/Codon 44 ($-\text{C}$)	7 (5.5)
6	Codon 8/9 ($+\text{G}$)/Codon 8/9 ($+\text{G}$)	3 (2.4)
7	Codon 5 ($-\text{CT}$)/Codon 5 ($-\text{CT}$)	3 (2.4)
8	IVSI-110 ($\text{G}>A$)/IVSI.110 ($\text{G}>A$)	1 (0.8)
9	IVSI.5 ($\text{G}>C$)/IVSI.5 ($\text{G}>C$)	1 (0.8)
10	Codon 36/37 ($-\text{T}$)/Codon 36/37 ($-\text{T}$)	1 (0.8)
	Compound Heterozygous
11	IVSII.1 ($\text{G}>A$)/IVSI.1 ($\text{G}>A$)	9 (7.1)
12	IVSI.1 ($\text{G}>A$)/Codon 8/9 ($+\text{G}$)	7 (5.5)
13	IVSI.1 ($\text{G}>A$)/IVSI.6 ($\text{T}>C$)	3 (2.4)
14	IVSII.1 ($\text{G}>A$)/Codon 8/9 ($+\text{G}$)	3 (2.4)
15	IVSII.1 ($\text{G}>A$)/Codon 8 ($-\text{AA}$)	3 (2.4)
16	Codon 8/9 ($+\text{G}$)/Codon 5 ($-\text{CT}$)	3 (2.4)
17	Codon 44 ($-\text{C}$)/codon 5 ($-\text{CT}$)	3 (2.4)
18	IVSI.1 ($\text{G}>A$)/Codon 8 ($-\text{AA}$)	2 (1.6)
19	IVSII.1 ($\text{G}>A$)/Codon 39 ($\text{C}>T$)	2 (1.6)
20	IVSII.1 ($\text{G}>A$)/Codon 5 ($-\text{CT}$)	2 (1.6)
21	Codon 39 ($\text{C}>T$)/codon 44 ($-\text{C}$)	2 (1.6)
22	IVSII.1 ($\text{G}>A$)/IVSI.6 ($\text{T}>C$)	2 (1.6)
23	IVS.I.5 ($\text{G}>C$)/codon 8/9 ($+\text{G}$)	2 (1.6)
24	IVSII.1 ($\text{G}>A$)/IVSI.110 ($\text{G}>A$)	1 (0.8)
25	Codon 5 ($-\text{CT}$)/Codon 8 ($-\text{AA}$)	1 (0.8)
26	IVSI.1 ($\text{G}>A$)/Codon 39 ($\text{C}>T$)	1 (0.8)
27	IVSII.1 ($\text{G}>A$)/IVSII.745 ($\text{C}>G$)	1 (0.8)
28	IVSI.1 ($\text{G}>A$)/codon 22 ($-7$ bp)	1 (0.8)
29	IVSII.1 ($\text{G}>A$)/codon 30 ($\text{G}>C$)	1 (0.8)
30	IVSI.5 ($\text{G}>C$)/codon 8 ($-\text{AA}$)	1 (0.8)
31	IVSI.5 ($\text{G}>C$)/codon 44 ($-\text{C}$)	1 (0.8)
32	Codon 39 ($\text{C}>T$)/codon 5 ($-\text{CT}$)	1 (0.8)
33	Codon 39($\text{C}>T$)/Codon 8/9 ($+\text{G}$)	1 (0.8)
34	Codon 44 ($-\text{C}$)/codon 8/9 ($+\text{G}$)	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)