Genetic counselling in the beta-thalassaemias

Abstract

The beta-thalassaemias are very important genetic disorders of haemoglobin synthesis and are amongst the commonest monogenic disorders. In view of the severity of beta-thalassaemia major, a number of screening programmes have been developed aimed at reducing the number of individuals born with the condition. Genetic counsellingplays a vital role in this process supporting the successful implementation of screening and delineating available options to at risk individuals. This review assesses the contribution of genetic counsellingat each stage of this process in the context of new diagnostic techniques and therapeutic options and discusses some of the more challenging aspects such as genotype/ phenotype correlation and coinheritance of other genetic conditions or genetic modifiers.

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Published
2013-03-26
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How to Cite
Ioannides, A. S. (2013). Genetic counselling in the beta-thalassaemias. Thalassemia Reports, 3(1s), e35. https://doi.org/10.4081/thal.2013.s1.e35