Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes

The HUGO Journal

Official Journal of the Human Genome Organisation

Table 5 Community-specific profiles of β-thalassaemia mutations in Uttar Pradesh, India

Mutation frequencies	Hindus						Muslims
Mutation frequencies	Brahmins	Kshatriyas	Vaishyas	Kayasthas	Other Backward Classes^a	Scheduled castes	Muslims
>50%			Codon 6	Codon 30	Other mutations
10–50%	Cap Site +1 (A>C) IVS1-5 (G>C) Codon 41/42 (−TCTT) Codon 8/9 (+G) Codon 30 (G>C) Other mutations	IVS1-5 (G>C) Codon 15 (G>A) Cap Site +1 (A>C) Codon 41/42 (−TCTT) Codon 16 (−C) Uncharacterized	IVS1-5 (G>C) Codon 8/9 (+G) Codon 16 (−C)	IVS1-5 (G>C)	Codon 16 (−C) IVS1-5 (G>C) Codon 15 (G>A)	Codon 30 (G>C) Cap Site +1 (A>C) Codon 41/42 (−TCTT) Codon 16 (−C) IVS1-1 (G>T) Codon 15 (G>A)	Codon 15 (G>A) Codon 41/42 (−TCTT) Codon 8/9 (+G) Uncharacterized Cap Site +1 (A>C)
<10%	IVS1-1 (G>T) Codon 16 (−C) Codon 15 (G>A) Uncharacterized	Codon 8/9 (+G) IVS1-1 (G>T) 619-bp del		Codon 41/42 (−TCTT) Codon 8/9 (+G) 619-bp del	Codon 41/42 (−TCTT) IVS1-1 (G>T) Codon 30 (G>C) Codon 8/9 (+G) Cap site + 1(A>C) Uncharacterized	IVS1-5 (G>C) Codon 8/9 (+G) 619-bp del	IVS1-5 (G>C) Codon 16 (−C) Codon 30 (G>C) IVS1-1 (G>T) 619-bp del
<1%		Codon 30(G>C)	Codon 41/42 (−TCTT) IVS1-1 (G>T) 619-bp del Codon 30 (G>C) Cap Site +1 (A>C) Codon 15 (G>A)	IVS1-1 (G>T) Codon 16 (−C) Cap Site +1 (A>C) Codon 15 (G>A) Other mutations Uncharacterized	619-bp del	Other mutations	Other mutations

^aOther Backward Classes are defined by the Government of India as economically disadvantaged communities, mainly ‘Backward castes’