- Arnold Christianson, professor (arnold.christianson@nhls.ac.za),
- Allison Streetly, honorary senior lecturer (allison.streetly@kcl.ac.uk),
- Aamra Darr, senior research fellow (a.r.darr@leeds.ac.uk)
- Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, South Africa
- Department of Public Health Sciences, GKT School of Medicine, King's College Hospital, London SE1 3QD
- Centre for Research in Primary Care, University of Leeds, Leeds LS2 9LP
Most of the recent advances in medical genetics have been in basic science and technology. Experience of translating these into effective, population based interventions is limited, but the potential is great, especially for lower resource countries.1 2 This is well illustrated by the experience of the national thalassaemia screening programme in Iran (p 1134), a comprehensive, primary care based programme for screening and genetic counselling. Since the programme's inception in 1996 premarital screening of 2.7 million couples has been carried out over five years, followed by genetic counselling of more than 10 000 couples who were found to be positive. This has resulted in a 70% reduction in the expected annual birth rate of affected infants.3 For a vast, lower-resource country with a population of 68 million, this is a considerable achievement.
As low and middle income countries undergo demographic and epidemiological transition and infant mortality falls below 50/1000 live births, congenital disorders become increasingly visible and costly, contributing up to 30% of infant mortality in countries in the eastern Mediterranean region. Sickle cell disease and thalassaemia are a natural “point of entry” to genetics services for many such countries.2 The thalassaemias are prevalent in the countries of the eastern Mediterranean region, South Asia, and South East Asia (figure). Thalassaemia major results in profound anaemia and death in infancy …
Sign in
Article access
Article access for 1 day
Purchase this article for £20 $30 €32*
The PDF version can be downloaded as your personal record







CiteULike
Connotea
Del.icio.us
Digg
Facebook
Mendeley
Reddit
Technorati
Twitter
Stumbleupon
Rapid responses
Latest Responses
Re: Ventilator associated pneumonia
Published 30 May 2012
Re: Restless legs syndrome
Published 30 May 2012
Author's reply
Published 30 May 2012
Re: Full access to trial data holds many benefits and a few pitfalls, conference hears
Published 30 May 2012
Restless Legs Syndrome: Fact or Fiction
Published 30 May 2012
Most responses
Venous thrombosis in users of non-oral hormonal contraception: follow-up study, Denmark 2001-10 (12 responses)
Published 10 May 2012 - 23:32
The psychiatric oligarchs who medicalise normality (9 responses)
Published 2 May 2012 - 15:42
Are doctors justified in taking industrial action in defence of their pensions? No (8 responses)
Published 8 May 2012 - 12:21
Are doctors justified in taking industrial action in defence of their pensions? Yes (8 responses)
Published 8 May 2012 - 12:21
The hardest thing: admitting error (7 responses)
Published 2 May 2012 - 12:27