Table 6 Frequencies of α-globin gene mutations and genotypes in 595 Hb H disease patients in Cyprus and in individual districts.
Mutation/Genotype | Cyprus-wide | Per District (%) a | ||||
|---|---|---|---|---|---|---|
n | Frequency(%) | Larnaca/Famagusta | Limassol | Nicosia | Paphos | |
α+ mutations | ||||||
IVS I-1 (-5 bp) | 78 | 13.11 | 17.22 | 7.14 | 12.5 | 7.69 |
Poly(A) AATAAA>AATGAA | 17 | 2.86 | 0.96 | 8.16 | 1.95 | – |
CD 108 (-C) | 5 | 0.84 | 0.48 | 1.02 | 0.78 | 7.69 |
Hb Icaria | 3 | 0.50 | – | 2.04 | 0.39 | – |
-α4.2 | 1 | 0.17 | – | – | 0.39 | – |
Hb Agrinio | 1 | 0.17 | – | – | 0.39 | – |
α0 mutations | ||||||
--MED I | 483 | 81.18 | 89.47 | 79.59 | 73.83 | 92.31 |
-α20.5 | 105 | 17.65 | 10.53 | 16.33 | 25.00 | 7.69 |
HS40 deletion | 3 | 0.50 | – | 2.04 | 0.39 | – |
--MED II | 2 | 0.34 | – | 2.04 | – | – |
--SEA | 2 | 0.34 | – | – | 0.78 | – |
α-globin genotypes | ||||||
-α3.7 / --MED I | 396 | 66.55 | 73.21 | 64.29 | 61.33 | 76.92 |
-α3.7 (type I) / -α20.5 | 88 | 14.79 | 8.13 | 14.29 | 21.09 | 7.69 |
IVS I-1 (-5 bp) / --MED I | 64 | 10.76 | 14.83 | 6.12 | 9.38 | 7.69 |
IVS I-1 (-5 bp) / -α20.5 | 14 | 2.35 | 2.39 | 1.02 | 3.12 | – |
Poly(A) AATAAA>AATGAA / --MED I | 13 | 2.18 | 0.96 | 6.12 | 1.17 | – |
CD 108 (-C) / --MED I | 5 | 0.84 | 0.48 | 1.02 | 0.78 | 7.69 |
-α3.7 (type I) / HS40 deletion | 3 | 0.50 | – | 2.04 | 0.39 | – |
Poly(A) AATAAA>AATGAA / -α20.5 | 3 | 0.50 | – | 1.02 | 0.78 | – |
Hb Icaria / --MED I | 3 | 0.50 | – | 2.04 | 0.39 | – |
-α3.7 (type I) / --SEA | 2 | 0.34 | – | – | 0.78 | – |
-α3.7 (type I) / --MED II | 1 | 0.17 | – | 1.02 | – | – |
-α4.2 / --MED I | 1 | 0.17 | – | – | 0.39 | – |
Hb Agrinio / --MED I | 1 | 0.17 | – | – | 0.39 | – |
Poly(A) AATAAA>AATGAA / --MED II | 1 | 0.17 | – | 1.02 | – | – |
