Table 1.
The distribution of various β-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 (G > A) | 73 (42/31) | 24 (13) | 25 | 28.7 |
| IVSI.1 (G > A) | 45 (34/11) | 10 (6) | 25 | 17.7 |
| Codon 8 (−AA) | 23 (19/4) | 8 (5) | 7 | 9.1 |
| Codon 8/9 (+G) | 23 (15/8) | 3 (2) | 17 | 9.1 |
| Codon 39 (C > T) | 23 (7/16) | 8 (5) | 7 | 9.1 |
| Codon 44 (−C) | 21 (2/19) | 7 (4) | 7 | 8.3 |
| Codon 5 (−CT) | 16 (8/8) | 3 (3) | 10 | 6.3 |
| IVSI.6 (T > C) | 6 (5/1) | 0 | 6 | 2.4 |
| IVSI.5 (G > C) | 6 (1/5) | 1 (1) | 4 | 2.4 |
| IVSI.110 (G > A) | 3 (3/0) | 1 (0) | 1 | 1.2 |
| Codon 36/37 (−T) | 2 (2/0) | 1 (1) | 0 | 0.8 |
| IVSII.745 (C > G) | 1 (1/0) | 0 | 1 | 0.4 |
| Codon 22 (−7 bp) | 1 (1/0) | 0 | 1 | 0.4 |
| Codon 30 (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 | |