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. 2021 Nov 12;100(45):e27713. doi: 10.1097/MD.0000000000027713

Table 3.

Prevalence of β-thalassemia in Northern Guangdong Province (n = 10,285).

Genotypes Phenotype Case number Constituent ratio (%) Prevalence ratio (%)
CD 41/42 (–TTCT)/N β0N 234 35.89 2.28
IVS-II-654 (C > T)/N β+N 218 33.44 2.12
CD 17 (A > T)/N β0N 67 10.28 0.65
–28 (A > G)/N β+N 63 9.66 0.61
CD 71/72 (+A)/N β0N 24 3.68 0.23
CD 27/28 (+C)/N β0N 14 2.15 0.14
βE(G > A)/N β+N 13 1.99 0.13
CD 14/15 (+G)/N β0N 5 0.77 0.05
–29 (A > G)/N β+N 4 0.61 0.04
CAP +1 (A > C)/N β+N 4 0.61 0.04
IVS-I-1 (G > T/A)/N β0N 3 0.46 0.03
CD43 (G > T)/N β0N 2 0.31 0.02
–80 (T > A)/N β+N 1 0.15 0.01
Total 652 100.00 6.34

A rare case with –80(T > A) homozygous mutation of β-thalassemia by Sanger sequencing.