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Table 3 Mean HbF Levels Among Haplotypes

From: A phased SNP-based classification of sickle cell anemia HBB haplotypes

aCSSCD

 
 

RFLP classification

SNP-based classification

Failed RFLP classification

Haplotype

n

mean

sd

n

mean

sd

n

mean

sd

BEN/BEN

253

6.69

5.58

379

6.39

5.14

89

6.07

4.32

BEN/CAR

157

7.32

7.63

261

7.04

6.77

74

6.83

5.37

BEN/SEN

62

8.18

4.75

116

7.99

5.32

33

7.72

5.50

BEN/CAM

32

4.81

3.89

53

5.33

5.19

15

6.06

6.18

CAR/CAR

21

5.52

3.71

41

5.59

3.90

16

5.66

4.47

CAR/SEN

11

9.80

3.48

24

8.91

7.59

7

11.24

13.14

CAR/CAM

9

3.80

2.51

18

3.96

3.24

8

4.41

4.16

SEN/SEN

7

9.24

5.30

13

8.74

4.35

5

7.58

3.35

CAM/SEN

3

7.43

6.23

9

8.61

6.02

5

9.24

7.17

BEN/AI

2

4.20

5.37

-

-

-

-

-

-

CAM/CAM

1

7.00

-

1

7.00

-

-

-

-

CAR/AI

1

16.10

-

1

16.10

-

-

-

-

bSW Saudi

 
 

RFLP classification

SNP-based classification

Failed RFLP classification

Haplotype

n

mean

sd

n

mean

sd

n

mean

sd

BEN/BEN

39

11.22

5.32

48

10.28

4.19

-

-

-

CAR/CAR

11

9.35

5.07

-

-

-

-

-

-

BEN/SEN

2

8.65

0.64

-

-

-

-

-

-

BEN/CAR

1

6.50

-

1

3.10

-

-

-

-

SEN/SEN

1

20.40

-

-

-

-

-

-

-

UNK

1

12.60

-

-

-

-

-

-

-

AI/AI

-

-

-

1

20.40

-

-

-

-

BEN/CAM

-

-

-

2

10.15

9.69

-

-

-

BEN/UNK

-

-

-

3

20.20

8.64

-

-

-

cE Saudi

 
 

RFLP classification

SNP-based classification

Failed RFLP classification

Haplotype

n

mean

sd

n

mean

sd

n

mean

sd

AI/AI

30

18.03

5.39

30

18.03

5.39

-

-

-

  1. Included are 559 patients with HbF phenotypes classified with RFLP method, 916 patients with HbF phenotypes classified with SNP-based method, and 252 samples that failed RFLP classification but were classifiable with SNP-based method. (n) is the number of patients in the corresponding haplotype class, (mean) is the mean of HbF per haplotype, (sd) is the standard deviation. aCSSCD are African Americans; bSW Saudi is Saudi patients from Southwestern Province; cE Saudi are Saudi patients from the Eastern Province. UNK-unknown