Table 4.

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

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

Notes ^apatient also had BCL11A.