Carrier screening for Beta-thalassaemia: a review of international practice

摘要: β-thalassaemia is one of the most common single-gene inherited conditions in world, and thalassaemia carrier screening widely performed genetic test, occurring many different countries. programmes provide a unique opportunity to compare delivery carried out cultural, religious social contexts. This review compares key characteristics implemented countries across world so that differences similarities between can be assessed. The manner which are structured among populations varies greatly several aspects, including whether mandatory or voluntary, education counselling provided offered pre-pregnancy antenatally. National international guidelines make recommendations on appropriate ways should conducted; however, these not followed programmes. We discuss implications for ethical acceptable implementation population identify paucity research into outcomes programmes, despite fact commonly conducted.