Genomic resource centre

Global applications of genomics in healthcare: Cyprus/Sardinia

Screening for thalassemias

Setting: community

Focus of intervention: healthcare providers/community

Background:

The Mediterranean peoples are especially at-risk to thalassemias, which affect individuals all over the world, climbing to numbers which are hundreds of thousands. Some countries, such as the United States, India, and other European countries have established some control measures, though there still is a lot to be implemented in populations which are more prone to this disease. Cyprus and Sardinia are two places where strong programs for thalassemia awareness and control have been implemented.

Intervention:

The programs in Cyprus and Sardinia are focused on a variety of aspects, one of which is increasing awareness of thalassemias. They have targeted all types of individuals, from adults to teenagers, encouraging people to be screened and tested. The knowledge has been spread via media, from newspapers to television to lectures in communal areas. Healthcare professionals have been trained in the knowledge of thalassemias as well. In Cyprus, many churches mandate that individuals who want to marry must provide evidence of having been tested for thalassemias. Pamphlets are distributed providing information about the disease, where to be tested, the history of the illness, and how to prevent it, covering all aspects of disease knowledge. Screenings are also conducted in some schools so teenagers are made aware so they can make conscientious decisions when they are adults. The testing is shown to be very accurate using the polymerase chain reaction to observe the specific mutations involved in the genes responsible for the hemoglobin molecule construction. Genetic counselling (link to Genetic Counselling web site) has become a large component of this process and continues to do so.

Results:

According to sources, the screening programs in the Mediterranean countries have proven to be very successful in reducing the number of thalassemia patients. In Sardinia, thalassemia major was present in 1 in 250 births, and has declined to 1 in 4000 births. Other countries in which such thalassemia programs have been introduced also show similar trends.

Sources:

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