Table 4 Genotypes of 50 Sri Lankan βTI patients, and their association with disease severity.

From: Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lanka

α globin genotype

β globin genotype

Xmn I Gγ

Disease severity

Mild

(n = 26)

Moderate

(n = 12)

Severe

(n = 12)

αα/αααα

IVSI −130 G → C

 

2

  

CD 15 –T

 

1

1

 

CD 16 - C

  

2

 

ααα/ααα

CD 15 G → A

 

1

  

IVSI-1 G → A

  

1

1

αα/ααα

IVSI-1 G → A

 

8

 

1

CD 15 G → A

 

1

  

CD 16 - C

 

1

  

IVSI-5 G → C

 

3

2

1

CD41/42 – CTTT

  

2

 

αα/αα

IVSI- 5 G → C/Hb G Coushatta

+/+

1

  

CD 30 G → C/CD 30 G → C

+/+

1

  

−90 C → T/−90 C → Ta

+/+

1

  

IVSI- 5 G → C/Hb G Szuhu

 

1

  

CD 30 G → C/CD 30 G → C

 

1

  

IVSI-5 G → C/HPFH3

 

2

  

IVSI-5 G → C

 

1

2

1

CD 15 -T

  

1

 

IVSI-5 G → C/IVSI-5 G → C

+/+

  

1

−α3.7/αα

IVSI-5 G → C/IVSI-5 G → C

 

1

 

2

CD 15 –T/IVSI −1 G → A

  

1

 

IVSII-1 G → A/IVSII-1 G → A

+/+

  

1

IVSI- I G → A/−90 C → T

   

1

−α4.2/αα

CD 16 - C/CD 16 - C

   

1

−α3.7/−α3.7

CD41/42–TTCT/CD41/42 TTCT

   

1

−α3.7/−α4.2

IVSI-5 G → C/IVSI-5 G → C

   

1

  1. Notes apatient also had BCL11A.
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