Table 1.
Heterozygous β-globin gene mutations, numbers and frequencies (%) in this study and comparison of frequencies with other studies performed in Turkey.
| Heterozygous Mutations | Frequency | ||||
|---|---|---|---|---|---|
| References | This Study | Antalya [7] | Ankara [9] | Istanbul [2] | |
| HBB: | n | % | % | % | % |
| c.93-21G>A [IVS-I-110 (G>A)] | 12 | 26.08 | 42.30 | 49.01 | 39.20 |
| c.17_18delCT [codon 5 (‒CT)] | 5 | 10.85 | 3.40 | 2.51 | 2.20 |
| c.20delA [codon 6 (‒A)] | 4 | 8.69 | ‒ | 0.45 | <1.00 |
| c.92G>T [IVS-I-1 (G>A)] | 3 | 6.52 | 5.10 | 7.99 | 5.50 |
| c.-137C>G [‒87 (C>G)] | 3 | 6.52 | ‒ | 0.36 | <1.00 |
| c.25_26delAA [codon 8 (‒AA)] | 3 | 6.52 | 3.20 | 7.63 | 6.10 |
| c.92+5G>C [IVS-I-5 (G>C)] | 3 | 6.52 | 1.50 | 1.08 | 1.10 |
| c.20A>T [codon 6 (A>T)] (Hb S) | 2 | 4.34 | 6.50 | ‒ | <1.00 |
| c.316-106C>G [IVS-II-745 (C>G)] | 2 | 4.34 | 6.80 | 7.00 | 4.60 |
| c.135delC [codon 44 (‒C)] | 2 | 4.34 | 3.20 | 3.23 | 1.30 |
| c.93-15T>G [IVS-I-116 (T>G)] | 1 | 2.17 | 0.20 | 0.36 | <1.00 |
| c.315-1G>A [IVS-II-1 (G>A)] | 1 | 2.17 | 8.80 | 5.92 | 5.4 |
| c.92+6T>C [IVS-I-6 (T>C)] | 1 | 2.17 | 7.00 | 4.67 | 9.5 |
| c.-78A>C [‒28 (A>C)] | 1 | 2.17 | ‒ | ‒ | ‒ |
| c.-18C>G [+33 (C>G) (5’UTR)] | 1 | 2.17 | ‒ | ‒ | ‒ |
| c.118C>T [codon 39 (C>T)] | 1 | 2.17 | ‒ | ‒ | ‒ |
| c.2727_28insG [codons 8/9 (+G)] | 1 | 2.17 | 1.50 | 1.44 | 1.50 |
| 46 | 100.00 | ||||
5’UTR: 5’ untranslated region.