Prevention of thalassaemia and haemoglobinopathies in remote and isolated communities--the Maldives experience.

The Maldives comprises 1192 islands covering a land mass that amounts to under 1% of the total geographical territory of the country. The population of 280,000 is dispersed across 200 isolated communities, with an average of 1000 people per community. Recent progress in health terms include a reduction in the infant mortality rate from 62 in 1992 to 14 in 2003, and 95% coverage in child immunization. In 1992, SHE a non-governmental organization established that the beta-thalassaemia prevalence rate was 18.1% (1 in 5) and on the basis of the result, launched a nationwide awareness and population screening programme, visiting each island in the Maldives every 5 years and targeting 12-35-year-olds. Screening of 100 cord blood samples indicated a 28% incidence of alpha-thalassaemia. Screening results highlighted significantly high incidence of more than one haemoglobinopathy on individual islands. This is of particular importance given the norm of intra-island marriages. Specific mutation analysis showed that three mutations accounted for more than 95% of the thalassaemia genes, ensuring a high detection rate and cost effectiveness of a prenatal diagnosis programme. Outcomes of the screening programme include screening of more than 25% of the target population; the establishment of a Government National Thalassaemia Centre; inclusion of thalassaemia into the school curriculum; the legal requirement for screening prior to marriage; legalization of prenatal diagnosis and medical termination of pregnancy; and the commencement of prenatal diagnostic services. The programme successes include effective advocacy, resource mobilization, motivation for screening, voluntary blood donation, and thalassaemia becoming a household word in the country.