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

Table 1

The distribution of various $\beta$-thalassemia mutations among 254 chromosomes from Northern Iraqi provinces of Dohuk and Erbil.

Mutation	Total number of chromosomes (Erbil/Dohuk)	Number of Homozygotes (Number with consanguineous parents)	Number of Heterozygotes	Overall Frequency
IVSII.1 ($\text{G}>A$)	73 (42/31)	24 (13)	25	28.7
IVSI.1 ($\text{G}>A$)	45 (34/11)	10 (6)	25	17.7
Codon 8 ($-\text{AA}$)	23 (19/4)	8 (5)	7	9.1
Codon 8/9 ($+\text{G}$)	23 (15/8)	3 (2)	17	9.1
Codon 39 ($\text{C}>T$)	23 (7/16)	8 (5)	7	9.1
Codon 44 ($-\text{C}$)	21 (2/19)	7 (4)	7	8.3
Codon 5 ($-\text{CT}$)	16 (8/8)	3 (3)	10	6.3
IVSI.6 ($\text{T}>C$)	6 (5/1)	0	6	2.4
IVSI.5 ($\text{G}>C$)	6 (1/5)	1 (1)	4	2.4
IVSI.110 ($\text{G}>A$)	3 (3/0)	1 (0)	1	1.2
Codon 36/37 ($-\text{T}$)	2 (2/0)	1 (1)	0	0.8
IVSII.745 ($\text{C}>G$)	1 (1/0)	0	1	0.4
Codon 22 ($-7$ bp)	1 (1/0)	0	1	0.4
Codon 30 ($\text{G}>C$)	1 (0/1)	0	1	0.4
Uncharacterized	10 (8/2)	3 (3)	4	3.9
Total	254 (148/106)	69 (43)	116