Table 3 Allele frequencies in 2335 carriers of β-globin gene mutations in in Cyprus and in individual districts.
Common name | HGVS name | IthaID 1 | Cyprus-wide | Per district (%) (95% CI) | ||||
|---|---|---|---|---|---|---|---|---|
n | Frequency (%) (95% CI) | Larnaca/Famagusta (n = 468) | Limassol(n = 525) | Nicosia(n = 722) | Paphos(n = 153) | |||
IVS I-110 (G>A) | HBB:c.93-21G>A | 113 | 1845 | 79.01 (77.29, 80.64) | 79.49 (75.48, 83.00) | 74.48 (70.48, 78.11) | 77.42 (74.16, 80.39) | 92.16 (86.39, 95.70) |
IVS I-6 (T>C) | HBB:c.92 + 6T>C | 111 | 148 | 6.34 (5.40, 7.42) | 5.98 (4.08, 8.63) | 6.48 (4.59, 9.02) | 7.34 (5.60, 9.55) | 3.27 (1.21, 7.86) |
IVS I-1 (G>A) | HBB:c.92 + 1G>A | 101 | 140 | 6.00 (5.08, 7.06) | 6.84 (4.80, 9.62) | 8.00 (5.89, 10.74) | 5.40 (3.92, 7.38) | 1.96 (0.51, 6.07) |
IVS II-745 (C>G) | HBB:c.316-106C>G | 214 | 96 | 4.11 (3.36, 5.02) | 4.70 (3.04, 7.14) | 5.33 (3.64, 7.71) | 4.02 (2.75, 5.79) | 1.96 (0.01, 0.89) |
CD 39 (CAG>TAG) | HBB:c.118C>T | 142 | 42 | 1.80 (1.32, 2.45) | 0.21 (0.01, 1.38) | 1.90 (0.97, 3.59) | 3.05 (1.97, 4.65) | – |
Hb S | HBB:c.20A>T | 824 | 22 | 0.94 (0.61, 1.45) | 0.85 (0.27, 2.32) | 1.14 (0.47, 2.60) | 0.97 (0.43, 2.08) | 0.65 (0.03, 4.14) |
-87 C>G | HBB:c.-137C>G | 10 | 12 | 0.51 (0.28, 0.92) | 0.43 (0.07, 1.71) | 0.76 (0.24, 2.08) | 0.42 (0.11, 1.32) | – |
CD 44 (-C) | HBB:c.135delC | 151 | 10 | 0.43 (0.22, 0.81) | – | 1.14 (0.47, 2.60) | 0.55 (0.18, 1.51) | – |
Hb Lepore Boston-Washington | NG_000007.3:g.63632_71046del7414 | 1399 | 4 | 0.17 (0.05, 0.47) | 0.21 (0.01, 1.38) | 0.19 (0.01, 1.23) | 0.14 (0.01, 0.89) | – |
IVS II-848 (C>A) | HBB:c.316-3C>A | 221 | 4 | 0.17 (0.05, 0.47) | 0.85 (0.01, 1.38) | – | – | – |
IVS II-1 (G>A) | HBB:c.315 + 1G>A | 200 | 3 | 0.13 (0.03, 0.41) | 0.21 (0.01, 1.38) | – | 0.14 (0.01, 0.89) | – |
Sicilian (δβ)0 | NG_000007.3:g.64336_77738del13403 | 1507 | 3 | 0.13 (0.03, 0.41) | – | 0.38 (0.07, 1.52) | – | – |
CAP + 33 (C>G) | HBB:c.-18C>G | 39 | 2 | 0.09 (0.01, 0.34) | – | 0.19 (0.01, 1.23) | 0.14 (0.01, 0.89) | – |
-101 (C>T) | HBB:c.-151C>T | 3 | 1 | 0.04 (0.002, 0.28) | – | – | 0.14 (0.01, 0.89) | – |
Hb City of Hope | HBB:c.208G>A | 1030 | 1 | 0.04 (0.002, 0.28) | 0.21 (0.01, 1.38) | – | – | – |
Hb D-Punjab | HBB:c.364G>C | 1217 | 1 | 0.04 (0.002, 0.28) | – | – | 0.14 (0.01, 0.89) | – |
Hb Knossos | HBB:c.82G>T | 91 | 1 | 0.04 (0.002, 0.28) | – | – | 0.14 (0.01, 0.89) | – |
