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| Authors | A E Felice R Galdes W Cassar M Pizzuto J Borg S Bezzina Wettinger M Caruana C A Scerri |
| Abstract | Background: Beta-thalassaemia is the most common single gene disorder in the Maltese population with a carrier rate of 1.8%. A national screening program was initiated by the Health Department in 1991 with the goal of identifying couples at risk and providing the necessary medical management and counseling. This study is an appraisal of the results achieved after a 15-year period. Procedure: Data of the total number of subjects tested for betathalassaemia was collected. It included haematological data of antenatal mothers and their partners (when required), as well as DNA mutational sequence analysis reports of newborns which were identified at risk of being affected by beta-thalassaemia through the antenatal screening process. Results: On a yearly basis an average of 3852 antenatal mothers were screened for beta-thalassaemia. Of these an annual average of 78 mothers were found to be consistent with beta-thalassaemia trait. After testing the partners of these cases, 1-2 couples annually were found to be at risk of having a child with beta-thalassaemia. These were counseled in view of their 25% chance of having an affected child. During the past fifteen years three new cases of beta-thalassaemia were identified through antenatal screening. Conclusion: Results show that prenatal diagnosis has been successful in identifying the majority of Maltese families at risk of beta-thalassaemia and the thalassaemia birth incidence has decreased considerably. This approach may represent a model for other comprehensive screening programs for significant genetic disorders such as familial Mediterranean fever and Phenylketonuria. However, education programs for the affected families and the general public are much needed. |
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| Journal | Malta Medical Journal |
| Volume | 15 Issue 1-2/suppl. 2003 |
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| Key words | antenatal, carrier, prenatal diagnosis, screening, status, beta thalassaemia |