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. 2016 May 20;6:26371. doi: 10.1038/srep26371

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 –