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 2 Prevalence rate of β-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 (%)
IVS II-654 C > T/β^N	β⁺/β^N	1735	1.273	35.257
CD 41/42 (− CTTT)/β^N	β⁰/β^N	1396	1.024	28.368
− 28 (A > G)/β^N	β⁺/β^N	595	0.436	12.091
CD 17 AAG > TAG [Lys > STOP]/β^N	β⁰/β^N	299	0.219	6.076
− 50 (G > A)/β^N*	β⁺/β^N	157	0.115	3.190
5'UTR + 43 to + 40 (− AAAC)/β^N*	β⁺/β^N	203	0.149	4.125
CD27-28 (+ C)/β^N	β⁰/β^N	114	0.084	2.317
CD71-72 (+ A)/β^N	β⁰/β^N	69	0.051	1.402
Chinese ^Gγ + (^Aγδβ)⁰/β^N*	β⁰/β^N	62	0.045	1.260
CD 43 (GAG > TAG)/β^N	β⁰/β^N	31	0.023	0.630
CD14-15 (+ G)/β^N	β⁰/β^N	28	0.021	0.569
SEA-HPFH/β^N*	β⁰/β^N	27	0.020	0.549
− 90 (C > T)/β^N*	β⁺/β^N	26	0.019	0.528
IVS II-761 A > G/β^N*	β⁰/β^N	25	0.018	0.508
− 29 (A > G)/β^N	β⁺/β^N	22	0.016	0.447
CAP + 8 (C > T)/β^N*	β⁺/β^N	26	0.019	0.528
Taiwanese/β^N*	β⁰/β^N	14	0.010	0.284
CAP + 22 (G > A)/β^N*	β⁺/β^N	13	0.010	0.264
CD 26 GAG > AAG [Glu > Lys]/β^N	β⁺/β^N	35	0.026	0.711
− 72 (T > A)/β^N*	β⁺/β^N	4	0.003	0.081
CD 56–60 (+ 14 bp)/β^N*	β⁰/β^N	7	0.005	0.142
− 28 (A > C)/β^N	β⁺/β^N	3	0.002	0.061
− 30 (T > C)/β^N	β⁰/β^N	4	0.003	0.081
IVS II-848 C > T/β^N*	β⁺/β^N	3	0.002	0.061
− 28 (A > G)/ − 28 (A > G)	β⁺/β⁺	2	0.001	0.041
− 86 (C > A)/β^N*	β⁺/β^N	2	0.001	0.041
IVS II-613 (C > T)/β^N*	β⁺/β^N	3	0.002	0.061
− 50 (G > A)/ − 28 (A > G)*	β⁺/β⁺	1	0.001	0.020
− 50 (G > A)/ CD 17 AAG > TAG [Lys > STOP]	β⁺/β⁰	1	0.001	0.020
− 50 (G > A)/ CD 41/42 (− CTTT)*	β⁺/β⁰	1	0.001	0.020
5'UTR + 43 to + 40 (− AAAC)/ CD 41/42 (− CTTT)*	β⁺/β⁰	2	0.001	0.041
CAP + 8 (C > T)/ IVS II-654 C > T*	β⁺/β⁺	1	0.001	0.020
IVS II-654 C > T/Taiwanese*	β⁺/β⁰	1	0.001	0.020
− 56 (G > C)/β^N*	β⁺/β^N	1	0.001	0.020
+ 20 (C > T)/β^N*	β⁺/β^N	1	0.001	0.020
− 87 (C > T)/β^N*	β⁺/β^N	1	0.001	0.020
Chinese ^Gγ + (^Aγδβ)⁰/ − 28 (A > G)*	β⁰/β⁺	1	0.001	0.020
Chinese ^Gγ + (^Aγδβ)⁰/IVS II-654 C > T*	β⁰/β⁺	1	0.001	0.020
Codon 121 (G > T)/β^N*	β⁰/β^N	1	0.001	0.020
Init CD ATG > AGG/β^N	β⁰/β^N	1	0.001	0.020
IVS-I-129 (A > G)/β^N*	β⁰/β^N	1	0.001	0.020
IVS-I-5 (G > C)/β^N	β⁺/β^N	1	0.001	0.020
Total		4921	3.610	100.000

*Indicates genotypes with rare mutations

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