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. 2025 Sep 19;104(9):4465–4476. doi: 10.1007/s00277-025-06604-7

Table 2.

Genotyping of α-thalassemia in Putian

Genotype Number of cases(n) Constituent ratio (%)
Common α-thalassemia --SEA/αα 1020 71.93
3.7/αα 199 14.03
--SEA/-α3.7 37 2.61
4.2/αα 32 2.26
ααCS/αα 31 2.19
ααWS/αα 23 1.62
ααQS/αα 19 1.34
--SEA/-α4.2 12 0.85
3.7/-α3.7 8 0.56
--SEA/ααQS 3 0.21
--SEA/ααWS 2 0.14
--SEA/--SEA 2 0.14
3.7/ααCS 2 0.14
3.7/-α4.2 1 0.07
3.7/ααQS 1 0.07
ααQS/ααQS 1 0.07
4.2/-α4.2 1 0.07
4.2/ααQS 1 0.07
--SEA/ααCS 1 0.07
ααWS/ααWS 1 0.07
Rare α-thalassemia αααanti4.2 6 0.42
--THAI/αα 4 0.28
HBA1:c.223G > C 3 0.21
Hkαα/--SEA 1 0.07
3.7/--THAI 1 0.07
4.2/--THAI 1 0.07
αααanti3.7 1 0.07
HBA1:c.300 + 55G > T 1 0.07
HBA1 :c.364G > A 1 0.07
HBA2:c.49 A > T 1 0.07
HBA2 :c.34 A > C 1 0.07
Total 1418 100.00