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Review

Genetic Counselling in the Beta-Thalassaemias

by
Adonis S. Ioannides
Medical School, University of Nicosia, Nicosia, Cyprus
Thalass. Rep. 2013, 3(s1), e35; https://doi.org/10.4081/thal.2013.s1.e35
Submission received: 18 February 2013 / Revised: 17 March 2013 / Accepted: 20 March 2013 / Published: 26 March 2013

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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MDPI and ACS Style

Ioannides, A.S. Genetic Counselling in the Beta-Thalassaemias. Thalass. Rep. 2013, 3, e35. https://doi.org/10.4081/thal.2013.s1.e35

AMA Style

Ioannides AS. Genetic Counselling in the Beta-Thalassaemias. Thalassemia Reports. 2013; 3(s1):e35. https://doi.org/10.4081/thal.2013.s1.e35

Chicago/Turabian Style

Ioannides, Adonis S. 2013. "Genetic Counselling in the Beta-Thalassaemias" Thalassemia Reports 3, no. s1: e35. https://doi.org/10.4081/thal.2013.s1.e35

APA Style

Ioannides, A. S. (2013). Genetic Counselling in the Beta-Thalassaemias. Thalassemia Reports, 3(s1), e35. https://doi.org/10.4081/thal.2013.s1.e35

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