Skip to main content

Table 3 Prevalence rate of combined α-/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

α-Thalassemia genotype

β-Thalassemia genotype

Phenotype

Cases

Detection rate (%)

Constituent ratio (%)

-@-SEA/αα

IVS II-654 C > T/βN

α0/α + β+/βN

119

0.087

19.572

-@-SEA/αα

CD 41/42 (− CTTT)/βN

α0/α + β0/βN

103

0.076

16.941

-α3.7/αα

IVS II-654 C > T/βN

α+/α + β+/βN

70

0.051

11.513

-α3.7/αα

CD 41/42 (− CTTT)/βN

α+/α + β+/βN

53

0.039

8.717

-@-SEA/αα

 − 28 (A > G)/βN

α0/α + β+/βN

40

0.029

6.579

-@-SEA/αα

CD 17 AAG > TAG [Lys > STOP]/βN

α0/α + β0/βN

23

0.017

3.783

-α4.2/αα

IVS II-654 C > T/βN

α+/α + β+/βN

22

0.016

3.618

-α4.2/αα

CD 41/42 (− CTTT)/βN

α+/α + β0/βN

15

0.011

2.467

-α3.7/αα

 − 28 (A > G)/βN

α+/α + β+/βN

12

0.009

1.974

-α3.7/αα

CD 17 AAG > TAG [Lys > STOP]/βN

α+/α + β0/βN

11

0.008

1.809

αWSα/αα

CD 41/42 (-CTTT)/βN

α+/α + β0/βN

9

0.007

1.480

αQSα/αα

IVS II-654 C > T/βN

α+/α + β+/βN

8

0.006

1.316

-α4.2/αα

 − 28 (A > G)/βN

α+/α + β+/βN

7

0.005

1.151

αWSα/αα

IVS II-654 C > T/βN

α+/α + β+/βN

7

0.005

1.151

-@-SEA/αα

CD27-28 (+ C)/βN

α0/α + β0/βN

4

0.003

0.658

-@-SEA/αα

Chinese Gγ + (Aγδβ)0/βN*

α0/α + β0/βN

4

0.003

0.658

-@-SEA/αα

5'UTR + 43 to + 40 (− AAAC)/βN*

α0/α + β+/βN

8

0.006

1.316

αCSα/αα

IVS II-654 C > T/βN

α+/α + β+/βN

4

0.003

0.658

-α4.2/αα

CD 17 AAG > TAG [Lys > STOP]/βN

α+/α + β0/βN

3

0.002

0.493

-α3.7/αα

SEA-HPFH /βN*

α+/α + β0/βN

3

0.002

0.493

-α3.7/αα

CD 26 GAG > AAG [Glu > Lys]/βN

α+/α + β+/βN

3

0.002

0.493

-α3.7/αα

5'UTR + 43 to + 40 (− AAAC)/βN*

α+/α + β+/βN

6

0.004

0.987

-@-THAI/αα

CD 41/42 (− CTTT)/βN

α0/α + β0/βN

3

0.002

0.493

-@-SEA/αα

CD 26 GAG > AAG [Glu > Lys]/βN

α0/α + β+/βN

3

0.002

0.493

-@-SEA/αα

CD71-72 (+ A)/βN

α0/α + β0/βN

3

0.002

0.493

-@-SEA/αα

 − 50 (G > A)/βN*

α0/α + β+/βN

3

0.002

0.493

αWSα/αα

CD 17 AAG > TAG [Lys > STOP]/βN

α+/α + β0/βN

3

0.002

0.493

αWSα/αα

 − 28 (A > G)/βN

α+/α + β+/βN

3

0.002

0.493

-α4.2/αα

SEA-HPFH /βN*

α+/α + β0/βN

2

0.001

0.329

-α4.2/αα

 − 50 (G > A)/βN*

α+/α + β+/βN

2

0.001

0.329

-α3.7/αα

CD27-28 (+ C)/βN

α+/α + β0/βN

2

0.001

0.329

-α3.7/αα

Chinese Gγ + (Aγδβ)0/βN*

α+/α + β0/βN

2

0.001

0.329

-α3.7/αα

 − 90 (C > T)/βN*

α+/α + β+/βN

2

0.001

0.329

-@-SEA/αα

CAP + 22 (G > A)/βN*

α0/α + β+/βN

2

0.001

0.329

-@-SEA/αα

 − 29 (A > G)/βN

α0/α + β+/βN

2

0.001

0.329

-α3.7/-@-SEA

IVS II-654 C > T/βN

α+/α0 + β+/βN

2

0.001

0.329

αQSα/αα

CD 41/42 (− CTTT)/βN

α+/α + β0/βN

2

0.001

0.329

αCSα/αα

CD 41/42 (− CTTT)/βN

α+/α + β0/βN

2

0.001

0.329

-α4.2/αα

CD71-72 (+ A)/βN

α+/α + β0/βN

1

0.001

0.164

-α4.2/αα

CD27-28 (+ C)/βN

α+/α + β0/βN

1

0.001

0.164

-α4.2/αα

Chinese Gγ + (Aγδβ)0/βN*

α+/α + β0/βN

1

0.001

0.164

-α4.2/αα

5'UTR + 43 to + 40 (− AAAC)/βN*

α+/α + β+/βN

1

0.001

0.164

-α3.7/αα

CD 26 GAG > AAG [Glu > Lys]/βN

α+/α + β+/βN

1

0.001

0.164

-α3.7/αα

CD71-72 (+ A)/βN

α+/α + β0/βN

1

0.001

0.164

-α3.7/αα

CAP + 8 (C > T)/βN*

α+/α + β+/βN

1

0.001

0.164

-α3.7/αα

 − 50 (G > A)/βN*

α+/α + β+/βN

1

0.001

0.164

-α3.7/αα

5'UTR + 43 to + 40 (− AAAC)/ − 28 (A > G)*

α+/α + β+/β+

1

0.001

0.164

αQSα/αα

CD 41/42 (− CTTT)/βN

α+/α + β0/βN

1

0.001

0.164

αQSα/αα

CD 43 (GAG > TAG)/βN

α+/α + β0/βN

1

0.001

0.164

-@-SEA/αα

Chinese Gγ + (Aγδβ)0/βN*

α0/α + β0/βN

1

0.001

0.164

-@-SEA/αα

SEA-HPFH /βN*

α0/α + β0/βN

1

0.001

0.164

-@-SEA/αα

IVS-I-1 (G > T)/βN

α0/α + β0/βN

1

0.001

0.164

-@-SEA/αα

CD 126 GTG > GGG [Val > Gly]/βN*

α0/α + β0/βN

1

0.001

0.164

-@-SEA/αα

CD14-15 (+ G)/βN

α0/α + β0/βN

1

0.001

0.164

-@-SEA/αα

CD 43 (GAG > TAG)/βN

α0/α + β0/βN

1

0.001

0.164

-@-SEA/αα

Chinese Gγ + (Aγδβ)0/ − 28 (A > G)*

α0/α + β0/β+

1

0.001

0.164

-@-SEA/αα

CAP + 8 (C > T)/βN*

α0/α + β+/βN

1

0.001

0.164

-@-SEA/αα

 − 90 (C > T)/βN*

α0/α + β0/βN

1

0.001

0.164

-@-SEA/αα

 − 72 (T > A)/βN*

α0/α + β+/βN

1

0.001

0.164

-α4.2/-α4.2

CD 41/42 (− CTTT)/βN

α+/α+ + β0/βN

1

0.001

0.164

-α4.2/-α4.2

CD27-28 (+ C)/βN

α+/α+ + β0/βN

1

0.001

0.164

-α3.7/-α3.7

CD 41/42 (− CTTT)/βN

α+/α+ + β0/βN

1

0.001

0.164

-α3.7/-@-SEA

CD27-28 (+ C)/βN

α+/α0 + β0/βN

1

0.001

0.164

-α3.7/-@-SEA

 − 28 (A > G)/βN

α+/α0 + β+/βN

1

0.001

0.164

Init CD ATG > A-G /αα

IVS II-654 C > T/βN

α+/α + β+/βN

1

0.001

0.164

αWSα/αα

CD 26 GAG > AAG [Glu > Lys]/βN

α+/α + β+/βN

1

0.001

0.164

αQSα/αα

CD 26 GAG > AAG [Glu > Lys]/βN

α+/α + β+/βN

1

0.001

0.164

αQSα/αα

CD 17 AAG > TAG [Lys > STOP]/βN

α+/α + β0/βN

1

0.001

0.164

αCSα/αα

CD 17 AAG > TAG [Lys > STOP]/βN

α+/α + β0/βN

1

0.001

0.164

αCSα/αα

 − 50 (G > A)/βN*

α+/α + β+/βN

1

0.001

0.164

αCSα/αα

 − 28 (A > G)/βN

α+/α + β+/βN

1

0.001

0.164

αCSα/αα

IVS II-654 C > T/βN

α+/α + β+/βN

1

0.001

0.164

αCSα/αα

Chinese Gγ + (Aγδβ)0/βN*

α+/α + β0/βN

1

0.001

0.164

CD 30 -GAG [-Glu]/αα

Chinese Gγ + (Aγδβ)0/βN*

α+/α + β0/βN

1

0.001

0.164

Total

 

608

0.446

100.000

  1. *Indicates genotypes with rare mutations
Back to article page

Human Genomics

ISSN: 1479-7364