Tasmanian Health Service – South, supported by Primary Health Tasmania, are providing an update to general practitioners on haemoglobinopathy (thalassaemia) screening guidelines for couples planning pregnancy and accessing care through THS South. The update will be provided by Dr Niles Nelson, Clinical Haematologist at the Royal Hobart Hospital.
Dr Nelson will outline the details for screening couples for thalassaemia to detect those at risk of having children with severe disease, with a view to offering prenatal diagnosis and treatment of affected children at the Royal Hobart Hospital.
It is estimated that approximately 2-4% of women of reproductive age in Tasmania are carriers for thalassaemia. In many cases, carriage of gene variants causative of these conditions may not cause abnormalities detectable on the full blood count. Multiple investigations including iron studies, haemoglobin studies (such as haemoglobin electrophoresis) and in some causes genetics studies are required to evaluate the carriage of these conditions.
This guideline represents a change in practice from screening ‘high-risk’ women to screening all women.