Table 2.
Distribution of β-thalassemia genotypes in Quanzhou region of Southeast China
Types | Genotypes | Cases | Frequency | Class |
---|---|---|---|---|
Heterozygote | βIVS−II−654/βN | 259 | 36.02% | Common |
βCD41–42/βN | 187 | 26.01% | Common | |
βCD17/βN | 141 | 19.61% | Common | |
βCD26/βN | 41 | 5.70% | Common | |
β−28/βN | 25 | 3.48% | Common | |
βCD27/28/βN | 15 | 2.09% | Common | |
βCD71–72/βN | 5 | 0.70% | Common | |
βCD43/βN | 5 | 0.70% | Common | |
βCAP+40–43βN | 3 | 0.42% | Common | |
βInt/βN | 3 | 0.42% | Common | |
βIVS−I−1/βN | 2 | 0.28% | Common | |
βCD14–15/βN | 2 | 0.28% | Common | |
SEA-HPFH | 5 | 0.70% | Rare | |
Hb Lepore-Boston-Washington | 4 | 0.56% | Rare | |
βIVS−II−806/βN | 3 | 0.42% | Rare | |
Chinese Gγ+(Aγδβ)0 | 2 | 0.28% | Rare | |
βCD53/βN | 2 | 0.28% | Rare | |
βIVS−II−672/βN | 2 | 0.28% | Rare | |
βCD15/βN | 1 | 0.14% | Rare | |
βCD54–58/βN | 1 | 0.14% | Rare | |
Filipino(~ 45 kb deletion) | 1 | 0.14% | Rare | |
βIVS−II−761/βN | 1 | 0.14% | Rare | |
βIVS−II−180/βN | 1 | 0.14% | Rare | |
Hb Lepore-Quanzhou | 1 | 0.14% | Novel | |
Compound heterozygote | βIVS−II−654/βIVS−II −654 | 2 | 0.28% | Common |
βCD41–42/βCD41–42 | 1 | 0.14% | Common | |
βCD26/β−28 | 1 | 0.14% | Common | |
βIVS−II−654M/β−28 | 1 | 0.14% | Common | |
βCD41–42/βCD17 | 1 | 0.14% | Common | |
βCD41–42/β−28 | 1 | 0.14% | Common | |
Total | 719 | 100.00% | / |