Table 5 Allele frequencies and genotypes in 592 β-thalassaemia patients in Cyprus and in individual districts.
Mutation/Genotype | Cyprus-wide | Per district (%) | ||||
|---|---|---|---|---|---|---|
n | Frequency(%) | Larnaca/Famagusta | Limassol | Nicosia | Paphos | |
β-globin mutations | ||||||
IVS I-110 (G>A) | 861 | 72.72 | 75.69 | 74.51 | 68.33 | 81.82 |
IVS I-6 (T>C) | 147 | 12.42 | 12.85 | 10.13 | 14.14 | 9.09 |
IVS I-1 (G>A) | 61 | 5.15 | 5.56 | 5.23 | 5.18 | 3.41 |
IVS II-745 (C>G) | 41 | 3.46 | 3.47 | 2.29 | 4.18 | 3.41 |
CD 39 (CAG>TAG) | 28 | 2.36 | 0.35 | 2.94 | 3.39 | 1.14 |
Hb S | 20 | 1.69 | 0.35 | 1.96 | 2.39 | 1.14 |
-87 (C>G) | 12 | 1.01 | 1.39 | 1.63 | 0.60 | – |
CAP + 33 (C>G) | 6 | 0.51 | – | – | 1.20 | – |
IVS II-1 (G>A) | 4 | 0.34 | – | 0.65 | 0.40 | – |
CD 44 (-C) | 2 | 0.17 | – | 0.65 | – | – |
-86 (C>G) | 1 | 0.08 | – | – | 0.20 | – |
CD 5 (-CT) | 1 | 0.08 | 0.35 | – | – | – |
β-globin genotypes | ||||||
IVS I-110 (G>A) / IVS I-110 (G>A) | 312 | 52.70 | 59.03 | 52.29 | 47.41 | 63.64 |
IVS I-110 (G>A) / IVS I-6 (T>C) | 112 | 18.92 | 19.44 | 16.99 | 19.92 | 18.18 |
IVS I-110 (G>A) / IVS I-1 (G>A) | 47 | 7.94 | 6.25 | 9.15 | 8.37 | 6.82 |
IVS I-110 (G>A) / IVS II-745 (C>G) | 27 | 4.56 | 4.17 | 4.58 | 4.38 | 6.82 |
IVS I-110 (G>A) / CD 39 (CAG>TAG) | 21 | 3.55 | – | 5.88 | 4.38 | 2.27 |
IVS I-110 (G>A) / Hb S | 13 | 2.20 | 0.69 | 3.27 | 2.39 | 2.27 |
IVS I-6 (T>C) / IVS I-6 (T>C) | 12 | 2.03 | 2.08 | 1.31 | 2.79 | – |
IVS I-110 (G>A) / -87 (C>G) | 9 | 1.52 | 2.08 | 3.27 | 0.40 | – |
IVS I-1 (G>A) / IVS II-745 (C>G) | 6 | 1.01 | 2.08 | – | 1.20 | – |
CAP + 33 (C>G) / CD 39 (CAG>TAG) | 4 | 0.68 | – | – | 1.59 | – |
IVS I-110 (G>A) / IVS II-1 (G>A) | 4 | 0.68 | – | 1.31 | 0.80 | – |
IVS I-6 (T>C) / IVS II-745 (C>G) | 4 | 0.68 | 0.69 | – | 1.20 | – |
IVS I-1 (G>A) / IVS I-6 (T>C) | 3 | 0.51 | 0.69 | – | 0.80 | – |
Hb S/Hb S | 2 | 0.34 | – | – | 0.80 | – |
IVS I-110 G>A / CAP + 33 (C>G) | 2 | 0.34 | – | – | 0.80 | – |
IVS I-6 (T>C) / Hb S | 2 | 0.34 | – | 0.65 | 0.40 | – |
-87 C>G / CD 39 (CAG>TAG) | 1 | 0.17 | – | – | 0.40 | – |
CD 44 -C / IVS I-1 G>A | 1 | 0.17 | – | 0.65 | – | – |
IVS I-1 G>A / -87 C>G | 1 | 0.17 | 0.69 | – | – | – |
IVS I-1 G>A / CD 44 –C | 1 | 0.17 | – | 0.65 | – | – |
IVS I-1 G>A / IVS I-1 G>A | 1 | 0.17 | 0.69 | – | – | – |
IVS I-110 G>A / -86 C>G | 1 | 0.17 | – | – | 0.40 | – |
IVS I-110 G>A / CD 5 -CT | 1 | 0.17 | 0.69 | – | – | – |
IVS I-6 (T>C) / -87 C>G | 1 | 0.17 | – | – | 0.40 | – |
IVS I-6 (T>C) / CD 39 (CAG>TAG) | 1 | 0.17 | 0.69 | – | – | – |
IVS II-745 C>G / CD 39 (CAG>TAG) | 1 | 0.17 | – | – | 0.40 | – |
IVS II-745 C>G / Hb S | 1 | 0.17 | – | – | 0.40 | – |
IVS II-745 C>G / IVS II-745 C>G | 1 | 0.17 | – | – | 0.40 | – |
