Friday 2 May 2025 14:21
Friday, 2 May 2025, 14:21
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A few days before World Thalassaemia Day on 8 May, doctors and families affected by the disease discussed ways of early diagnosis and prevention. According to health statistics, about 170 000 Bulgarians carry the gene mutation for this rare hereditary blood disorder. About 100 children suffer from the severe form of the disease and need monthly blood transfusions. According to experts, the state has no programme to identify the gene carriers and reduce the risk of more children being born with the severe form of the disease.
Thalassaemia is diagnosed during pregnancy in women who already have a child with the disease, or when both parents are carriers. Treatment is available for almost all forms, with the exception of gene therapy. A major problem is the need for regular blood transfusions. Difficulties in securing blood supplies put affected children at risk.
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