Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China

Yang, Tong; Luo, Xuemei; Liu, Yanqiu; Lin, Min; Zhao, Qinfei; Zhang, Wenqian; Chen, Zhigang; Dong, Minghua; Wang, Junli; Wang, Qi; Zhang, Xiaokang; Zhong, Tianyu

doi:10.1186/s40246-023-00520-5

Human Genomics

Table 1 Prevalence rate of α-thalassemia genotypes, phenotypes, and constituent ratios in Gannan populations

From: Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China

Genotype	Phenotype	Cases	Detection rate (%)	Constituent ratio (%)
-@-^SEA/αα	α⁰/α	7736	5.675	54.105
-α^3.7/αα	α⁺/α	4005	2.938	28.011
-α^4.2/αα	α⁺/α	1242	0.911	8.687
α^WSα/αα	α⁺/α	507	0.372	3.546
α^CSα/αα	α⁺/α	251	0.184	1.755
α^QSα/αα	α⁺/α	129	0.095	0.902
-α^3.7/-@-^SEA	α⁺/α⁰	119	0.087	0.832
Hb Phnom Penh/αα*	α⁺/α	59	0.043	0.413
-α^4.2/-@-^SEA	α⁺/α⁰	43	0.032	0.301
-@-^THAI/αα*	α⁰/α	35	0.026	0.245
-α^3.7/-α^3.7	α⁺/α⁺	27	0.020	0.189
-α^3.7/-α^4.2	α⁺/α⁺	22	0.016	0.154
Init CD ATG > A-G /αα*	α⁺/α	17	0.012	0.119
α^WSα/-@-^SEA	α⁺/α⁰	17	0.012	0.119
CD 30 -GAG [-Glu]/αα*	α⁺/α	10	0.007	0.070
α^CSα/-@-^SEA	α⁺/α⁰	10	0.007	0.070
-α^4.2/-α^4.2	α⁺/α⁺	7	0.005	0.049
α^CSα/-α^3.7	α⁺/α⁺	8	0.006	0.056
α^WSα/-α^3.7	α⁺/α⁺	7	0.005	0.049
Hb Phnom Penh/-@-^SEA*	α⁺/α⁰	6	0.004	0.042
CD 61 AAG > TAG [Lys > STOP]/αα*	α⁺/α	4	0.003	0.028
CD 109 (-C)/αα*	α⁺/α	3	0.002	0.021
-α^4.2/-@-^THAI*	α⁺/α⁰	3	0.002	0.021
α^QSα/-@-^SEA	α⁺/α⁰	3	0.002	0.021
α^QSα/-α^3.7	α⁺/α⁺	3	0.002	0.021
HKαα/-@-^SEA*	α⁺/α⁰	3	0.002	0.021
CD 22–26 (-9 bp)/-α^3.7*	α⁺/α⁺	2	0.001	0.014
α^fusion/αα*	α⁺/α	5	0.004	0.035
α^WSα/-α^4.2	α⁺/α⁺	2	0.001	0.014
α^WSα/Hb Phnom Penh*	α⁺/α⁺	1	0.001	0.007
Hb Phnom Penh/-α^3.7*	α⁺/α⁺	1	0.001	0.007
CD 6 GAC > CAC [Asp > His]/αα*	α⁺/α	1	0.001	0.007
CD 32 ATG > ATA [Met > Ile]/αα*	α⁺/α	3	0.002	0.021
CD 17 GTC > TTC [Val > Phe]/αα*	α⁺/α	1	0.001	0.007
Init CD ATG > GTG/αα*	α⁺/α	1	0.001	0.007
IVS I-116 A > G/αα*	α⁺/α	1	0.001	0.007
IVS I-55 G > A/αα*	α⁺/α	1	0.001	0.007
-α^3.7/-@-^THAI*	α⁺/α⁰	1	0.001	0.007
α^QSα/-α^4.2	α⁺/α⁺	1	0.001	0.007
HKαα/-α^4.2*	α⁺/α⁺	1	0.001	0.007
Total		14,298	10.489	100.000

*Indicates genotypes with rare mutations

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ISSN: 1479-7364

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