From: Alpha and beta-Thalassemia mutations in Hubei area of China
Genotype | n | Frequency (%) |
---|---|---|
α-thalassemia | ||
--SEA/αα | 356 | 66.05 |
-α3.7/αα | 130 | 24.12 |
-α4.2/αα | 20 | 3.71 |
-α3.7/−α3.7 | 4 | 0.74 |
-α4.2/−α4.2 | 1 | 0.19 |
-α3.7/−−SEA | 19 | 3.53 |
-α4.2/−−SEA | 9 | 1.67 |
Total α-thalassemia | 539 | 100 |
β-thalassemia | ||
Heterozygote | ||
βIVS-II-654/βN | 546 | 47.89 |
βCD41–42/βN | 284 | 24.91 |
βCD17/βN | 158 | 13.86 |
βCD27–28/βN | 32 | 2.81 |
βCD71–72/βN | 28 | 2.46 |
β − 28/βN | 20 | 1.75 |
βCD43/βN | 13 | 1.14 |
β − 29/βN | 10 | 0.88 |
βE/βN | 8 | 0.7 |
βCD14–15/βN | 3 | 0.26 |
βIVS-I-1/βN | 3 | 0.26 |
βIVS-1-5/βN | 2 | 0.18 |
βcap | 2 | 0.18 |
Total β-thalassemia | 1109 | 97.28 |
Compound heterozygote | ||
βCD41–42/βIVS-II-654 | 5 | 0.44 |
β −28/βIVS-II-654 | 4 | 0.35 |
βCD17/βIVS-II-654 | 3 | 0.26 |
βCD41–42/βCD17 | 1 | 0.08 |
βCD71–72/βCD14–15 | 1 | 0.08 |
β-29/βIVS-II-654 | 1 | 0.08 |
βE /βIVS-II-654 | 1 | 0.08 |
βCD27–28/βIVS-II-654 | 1 | 0.08 |
βE /βCD27–28 | 1 | 0.08 |
β-28/βCD17 | 1 | 0.08 |
βCD71–72/βCD17 | 1 | 0.08 |
Total Compound heterozygote | 20 | 1.75 |
Homozygote | ||
βIVS-II-654/βIVS-II-654 | 6 | 0.53 |
βCD41–42/βCD41–42 | 2 | 0.18 |
βCD17/βCD17 | 1 | 0.08 |
β − 29/β − 29 | 1 | 0.08 |
βCD27–28/βCD27–28 | 1 | 0.08 |
Total Homozygote | 11 | 0.96 |
α- and β-thalassemia | ||
-α3.7/αα and βIVS-II-654/βN | 7 | 28 |
-α3.7/αα and βCD41–42/βN | 4 | 16 |
--SEA/αα and IVS-II-654/βN | 4 | 16 |
--SEA/αα and βCD41–42/βN | 3 | 12 |
-α4.2/αα and IVS-II-654/βN | 2 | 8 |
-α3.7/αα and βCD17/βN | 1 | 4 |
-α3.7/αα and βE/βN | 1 | 4 |
--SEA/αα and βCD17/βN | 1 | 4 |
--SEA/αα and βIVS-I-5/βN | 1 | 4 |
-α3.7/−−SEA and βCD41–42/βN | 1 | 4 |
Total α- and β-thalassemia | 25 | 100 |