Table 3.
Allele frequency and number of affected chromosomes by β-thalassaemia mutations in Mazandaran and Golestan provinces (n = 1364).
| Mutation | Mazandaran | Percent | Golestan | Percent | |
|---|---|---|---|---|---|
| -101 C>T | c.-151C>T | 12 | 1.23 | 0 | 0 |
| -88 C>A | c.-138C>A | 0 | 0 | 6 | 1.54 |
| -87 C>A | c.-137C>A | 1 | 0.10 | 0 | 0.00 |
| -30 T>C | c.-80T>C | 2 | 0.21 | 0 | 0.00 |
| -28 A>C | c.-78A>C | 3 | 0.31 | 0 | 0.00 |
| 3-UTR-1570 T>C | c.∗96T>C | 1 | 0.10 | 0 | 0.00 |
| 5-UTR-22 G>A | c.-29G>A | 26 | 2.67 | 1 | 0.26 |
| CD 5 (-CT) | c.17_18delCT | 9 | 0.92 | 3 | 0.77 |
| CD 8 (-AA) | c.25_26delAA | 48 | 4.93 | 8 | 2.05 |
| Fr 8/9 (+G) | c.27_28insG | 13 | 1.33 | 15 | 3.85 |
| CD 14/15 (+G) | c.45_46insG | 0 | 0 | 1 | 0.26 |
| CD 15 TGG>TAG | c.47G>A | 2 | 0.21 | 17 | 4.36 |
| CD 17 AAG>TAG | c.52A>T | 0 | 0.00 | 1 | 0.26 |
| CD 22/23/24 (-GAA GTT GGT) | c.68_74delAAGTTGG | 52 | 5.34 | 1 | 0.26 |
| CD 25/26 (+T) | c.78_79insT | 1 | 0.10 | 0 | 0.00 |
| CD 27/Hb Knossos GCC> TCC | c.82G>T | 5 | 0.51 | 0 | 0.00 |
| CD 30 AGG>ACG | c.92G>C | 39 | 4.00 | 3 | 0.77 |
| IVSI-1 G>A | c.92+1G>A | 9 | 0.92 | 7 | 1.79 |
| IVSI-2 T>C | c.92+2T>C | 1 | 0.10 | 0 | 0.00 |
| IVSI-5 G>C | c.92+5G>C | 36 | 3.70 | 174 | 44.62 |
| IVSI-6 T>C | c.92+6T>C | 8 | 0.82 | 6 | 1.54 |
| IVSI-25 del (-GTCTATTTTCCCACCCTTAGGCTGC) | c.93-22_95del | 6 | 0.62 | 9 | 2.31 |
| IVSI-110 G>A | c.93-21G>A | 12 | 1.23 | 5 | 1.28 |
| IVSI-128 T>G | c.93-3T>G | 6 | 0.62 | 0 | 0.00 |
| IVSI-129 A>G | c.93-2A>G | 1 | 0.10 | 0 | 0.00 |
| IVSI-130 G>C | c.93-1G>C | 12 | 1.23 | 5 | 1.28 |
| CD 36/37 (-T) | c.112delT | 4 | 0.41 | 1 | 0.26 |
| CD37/38/39 (-GACCCAG) | c.114_120delGACCCAG | 0 | 0.00 | 1 | 0.26 |
| CD39 CAG>TAG | c.118C>T | 4 | 0.41 | 1 | 0.26 |
| CD 41/42 (-TTCT) | c.126_129delCTTT | 1 | 0.10 | 0 | 0.00 |
| CD 44 (-C) | c.135delC | 9 | 0.92 | 4 | 1.03 |
| CD 56 (GGC>CGC) | c.169 G>C | 1 | 0.10 | 0 | 0.00 |
| CD 77 CAC>GAC | c.232C>G | 1 | 0.10 | 0 | 0.00 |
| CD 80 AAC>AA- | c.243 C>- | 0 | 0.00 | 1 | 0.26 |
| CD 81 CTC>-TC | C.245-246delTC | 0 | 0.00 | 1 | 0.26 |
| CD 80/81 (-C) | C.243-244delC | 0 | 0.00 | 3 | 0.77 |
| CD 82/83 (-G) | c.251delG | 8 | 0.82 | 3 | 0.77 |
| CD101 GAG>TAG | c.304G>T | 1 | 0.10 | 0 | 0.00 |
| IVSII-1 G>A | c.315+1G>A | 576 | 59.14 | 106 | 27.18 |
| IVSII-1 G>C | c.315+1G>C | 2 | 0.21 | 0 | 0.00 |
| IVSII-2 T>G | c.315+2T>G | 3 | 0.31 | 0 | 0.00 |
| IVSII-654 C>T | c.316-197C>T | 2 | 0.21 | 0 | 0.00 |
| IVSII-745 C>G | c.316-106C>G | 21 | 2.16 | 4 | 1.03 |
| IVSII-848 C>A | c.316-3C>A | 1 | 0.10 | 1 | 0.26 |
| IVSII-850 G>T | c.316-1G>T | 8 | 0.82 | 0 | 0.00 |
| Sicilian | g.64336_77738del13403 | 7 | 0.72 | 0 | 0.00 |
| Asian-Indian | g.50509_83170del32662 | 7 | 0.72 | 0 | 0.00 |
| CD 123 ACC>AAC | c.371C>A | 1 | 0.10 | 0 | 0.00 |
| CD 123/124/125 deletion | c.370_378delACCCCACCA | 0 | 0.00 | 1 | 0.26 |
| CD 126 GTG>GGG | c.380T>G | 9 | 0.92 | 0 | 0.00 |
| CD 146 CAC>CTC | c.440A>T | 1 | 0.10 | 0 | 0.00 |
| Delta-beta-gamma deletion | Delta-beta-gamma deletion | 1 | 0.10 | 0 | 0.00 |
| Exon 3 deletion | Exon 3 deletion | 1 | 0.10 | 1 | 0.26 |
| 974 | 100 | 390 | 100 | ||