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Table 1 Genotype, number of subjects and frequency of thalassemia deletions

From: Alpha and beta-Thalassemia mutations in Hubei area of China

Genotype

n

Frequency (%)

α-thalassemia

 --SEA/αα

356

66.05

 -α3.7/αα

130

24.12

 -α4.2/αα

20

3.71

 -α3.7/−α3.7

4

0.74

 -α4.2/−α4.2

1

0.19

 -α3.7/−−SEA

19

3.53

 -α4.2/−−SEA

9

1.67

 Total α-thalassemia

539

100

β-thalassemia

Heterozygote

 βIVS-II-654/βN

546

47.89

 βCD41–42/βN

284

24.91

 βCD17/βN

158

13.86

 βCD27–28/βN

32

2.81

 βCD71–72/βN

28

2.46

 β − 28/βN

20

1.75

 βCD43/βN

13

1.14

 β − 29/βN

10

0.88

 βE/βN

8

0.7

 βCD14–15/βN

3

0.26

 βIVS-I-1/βN

3

0.26

 βIVS-1-5/βN

2

0.18

 βcap

2

0.18

 Total β-thalassemia

1109

97.28

Compound heterozygote

 βCD41–42/βIVS-II-654

5

0.44

 β −28/βIVS-II-654

4

0.35

 βCD17/βIVS-II-654

3

0.26

 βCD41–42/βCD17

1

0.08

 βCD71–72/βCD14–15

1

0.08

 β-29/βIVS-II-654

1

0.08

 βE /βIVS-II-654

1

0.08

 βCD27–28/βIVS-II-654

1

0.08

 βE /βCD27–28

1

0.08

 β-28/βCD17

1

0.08

 βCD71–72/βCD17

1

0.08

 Total Compound heterozygote

20

1.75

Homozygote

 βIVS-II-654/βIVS-II-654

6

0.53

 βCD41–42/βCD41–42

2

0.18

 βCD17/βCD17

1

0.08

 β − 29/β − 29

1

0.08

 βCD27–28/βCD27–28

1

0.08

 Total Homozygote

11

0.96

α- and β-thalassemia

 -α3.7/αα and βIVS-II-654/βN

7

28

 -α3.7/αα and βCD41–42/βN

4

16

 --SEA/αα and IVS-II-654/βN

4

16

 --SEA/αα and βCD41–42/βN

3

12

 -α4.2/αα and IVS-II-654/βN

2

8

 -α3.7/αα and βCD17/βN

1

4

 -α3.7/αα and βE/βN

1

4

 --SEA/αα and βCD17/βN

1

4

 --SEA/αα and βIVS-I-5/βN

1

4

 -α3.7/−−SEA and βCD41–42/βN

1

4

 Total α- and β-thalassemia

25

100