The use of next-generation sequencing (NGS) in the diagnosis of rare inherited anaemias is increasingly common, as evidenced by a growing number of publications describing its clinical utility.1–6 Excluding disorders of globin synthesis, rare anaemias include Diamond-Blackfan anaemia (DBA), congenital dyserythropoietic anaemias (CDA), congenital sideroblastic anaemias (CSA), and disorders of red cell membrane and enzymes. Other forms of genetic anaemias can also be considered while establishing NGS panels, in particular genetic syndromes, where anaemia comprises one of the constellation of symptoms.

Dr Noemi Roy Audio Commentary - Length: 25:02

Declaration of Interests

The BSH paid the expenses incurred during the writing of this guidance. None of the authors had conflicts of interest to declare. All authors have made a declaration of interests to the BSH and Task Force Chairs which may be viewed on request.