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Advances in the understanding the pathogenesis of blood diseases and improvements in their treatment have continued apace in the 5 years since the eighth edition of Hoffbrand’s Essential Haematology was published. Gene mutations are increasingly used to define and classify inherited and acquired haematological diseases, as a guide to therapy and to predict prognosis. Mutations underlying many rarer blood diseases have been identified, allowing appropriate panels of DNA probes to be established,
facilitating the diagnosis of future cases. Many more drugs directed against specific sites in the cell signalling pathways have been approved. The past five years have also seen substantial advances in immunological treatment for malignant haematological diseases. Mono-and bi-specific antibodies are increasingly incorporated into frontline therapy as well into treatment of relapsed disease. Chimeric antigen receptor (CAR)-T cells are challenging stem cell transplantation for potential cure for relapsed B-cell lymphoid neoplasms. New drugs have also been introduced for treatment of benign (now termed in the United States ‘classical’) haematological
diseases. These include mitapivat for pyruvate kinase deficiency, sutimlimab for cold agglutinin disease, luspatercept for anaemia in thalassaemia and myelodysplasia and pegcetacoplan for paroxysmal nocturnal haemoglobinuria. Drugs inhibiting prolyl hydroxylase in the hypoxia-inducible factor pathway are being developed to treat anaemia. They are already in illegal use for ‘doping’ of athletes to enhance their performance