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This review assesses genetic counselling practices for thalassaemia in public health, highlighting the need for trained professionals.
In haematology, a wide range of blood disorders are hereditary. The thalassaemias are hereditary anaemias characterised by a high burden of disease at the public health level, challenging the resources of many health systems. This review focuses on thalassaemia for which many countries have developed screening and prevention programmes. To manage this heavy burden two approaches were introduced include the reduction of new affected births aiming to keep the patient population from increasing continuously, and at the same time, offering parents a chance to informed choice concerning their reproductive life. Genetic counselling is a vital component of prevention aiming to inform individuals who are found to be carriers and couples who are both carriers in the case of recessive inheritance, of the possible consequences. These are all complex issues which may have to be discussed and challenge the skills which a genetic counsellor is expected to possess and utilise in every counselling session. The concern is that such trained and skilled scientists are few in numbers. It is obvious that for blood disorders counselling is rarely in the hands of qualified counsellors. Currently, in almost all haemoglobinopathy prevention programmes, counselling is offered by the clinicians in charge of clinical care. It is necessary to incorporate genetic counselling as an integral part of haematology services. The Thalassaemia International Federation suggests special training as part of haematology training, considering the complexity of the issues that must be discussed and a multidisciplinary approach to counselling should be considered where possible.
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Angastiniotis et al. (2025) studied this question.
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