Mutation | Phenotype | n | Number of alleles | Allele frequency (ratio) |
---|---|---|---|---|
α-Thalassaemia | ||||
--SEA | α0/α | 42 | 42 | 70.00% (42/60) |
-α3.7 | α+/α | 16 | 16 | 30.00% (18/60) |
-α3.7/-α3.7 | α+/α+ | 1 | 2 | – |
β-Thalassaemia | ||||
CD17 | β0/βA | 20 | 20 | 12.35% (20/162) |
HbE | βE/βA | 132 | 132 | 87.65% (142/162) |
HbE/HbE | βE/βE | 5 | 10 | – |
α, the normal α-globin chain; α0, the α-globin chain is totally deleted; α+, the α-globin chain is partly deleted; βA, the normal β-globin chain; βE, the abnormal β-globin chain of HbE mutation; β0, the β-globin chain is totally deleted.