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. 2024 Oct 1;17:241. doi: 10.1186/s12920-024-02014-2

Table 2.

Distribution of β-thalassemia genotypes in Quanzhou region of Southeast China

Types Genotypes Cases Frequency Class
Heterozygote βIVS−II−654N 259 36.02% Common
βCD41–42N 187 26.01% Common
βCD17N 141 19.61% Common
βCD26N 41 5.70% Common
β−28N 25 3.48% Common
βCD27/28N 15 2.09% Common
βCD71–72N 5 0.70% Common
βCD43N 5 0.70% Common
βCAP+40–43βN 3 0.42% Common
βIntN 3 0.42% Common
βIVS−I−1N 2 0.28% Common
βCD14–15N 2 0.28% Common
SEA-HPFH 5 0.70% Rare
Hb Lepore-Boston-Washington 4 0.56% Rare
βIVS−II−806N 3 0.42% Rare
Chinese Gγ+(Aγδβ)0 2 0.28% Rare
βCD53N 2 0.28% Rare
βIVS−II−672N 2 0.28% Rare
βCD15N 1 0.14% Rare
βCD54–58N 1 0.14% Rare
Filipino(~ 45 kb deletion) 1 0.14% Rare
βIVS−II−761N 1 0.14% Rare
βIVS−II−180N 1 0.14% Rare
Hb Lepore-Quanzhou 1 0.14% Novel
Compound heterozygote βIVS−II−654IVS−II −654 2 0.28% Common
βCD41–42CD41–42 1 0.14% Common
βCD26−28 1 0.14% Common
βIVS−II−654M−28 1 0.14% Common
βCD41–42CD17 1 0.14% Common
βCD41–42−28 1 0.14% Common
Total 719 100.00% /