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Official Journal of the Human Genome Organisation

Table 1 Profile of studies included in the meta-analysis of β-thalassaemia mutations in India

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

Region

State(s)

Study period

Study population

No of subjects (alleles)

Reference

All India

12 of 28 states

1992–1998

Referral

1,228 (1,228)

Vaz et al. (2000)

12 of 28 states

1997–2006

Referral

1,029 (1,544)

Edison et al. (2008)

12 of 28 states

1995–2007

Referral and screening programmes

2,089 (2,089)

Colah et al. (2009)a

West

Gujarat, Maharashtra, other non-West

Not stated

Referral

269 (269)

Varawalla et al. (1991a)b

Gujarat

Not stated

Referral

248 (248)

Sheth et al. (2008)

North

Punjab, other non-North

1991–1993

Referral

124 (195)

Garewal et al. (1994)

Punjab, Haryana, Uttar Pradesh, Other North, Other non-North

Not stated

Referral

474 (474)

Verma et al. (1997)c

Uttar Pradesh

1988–1998

Referral

376 (376)

Agarwal et al. (2000b)

Punjab

1998–2002

Referrals

176 (352)

Garewal and Das (2003)

Uttar Pradesh, Punjab, Other non-North

1998–2002

Referral

328 (328)

Gupta et al. (2003)

Punjab

1998–2004

Referral

35 (88)

Garewal et al. (2005)

Uttar Pradesh

2003–2007

Referral and field study

578 (626)

Tamhankar et al. (2009)

East

West Bengal

1995–1998

Referral and field study

291 (221)

Das et al. (2000)d

West Bengal

Not stated

Referral

60 (80)

Kukreti et al. (2002)

West Bengal, Jharkand, Orissa, Other Northeast

2000–2003

Referral

63 (110)

Bandyopadhyay et al. (2004)d,e

South

Andhra Pradesh, Karnataka, Other non-South

2001–2003

Referral

77 (77)

Bashyam et al. (2004)d

Andhra Pradesh

2005–2007

Referral

190 (200)

Munshi et al. (2009)d

  1. Data deemed ineligible for the study are separately presented in Supplementary Information (S1). They comprise
  2. a291 subjects listed as ‘immigrants’
  3. b167 subjects listed as North West Pakistan and 142 as ‘Punjab’
  4. c53 subjects listed as Pakistan (Sindh)
  5. dHomozygous and heterozygous HbE subjects, and HbE alleles from HbE thalassaemia cases
  6. e1 subject and 650 chromosomes of ambiguous geographical origins