There have been remarkable advances in the understanding of the pathogenesis of diseases of the blood and lymphatic system and in the treatment of these diseases, since the 6th Edition of Essential Haematology was published in 2011. This new knowledge is due largely to the application of next generation sequencing of DNA which has enabled the detection of the genetic mutations, inherited or acquired, that underlie these diseases. As examples, sequencing has revealed the CALR mutation underlying a substantial proportion of patients with myeloproliferative diseases and the MYD88 mutation present in almost all cases of Waldenström’s macrogobulinaemia. Multiple ‘driver’ gene mutations affecting signalling pathways and epigenetic reactions involved in cell proliferation and survival have been discovered which underlie myelodysplasia, acute myeloid and lymphoblastic leukaemias, chronic lymphocytic leukaemia and the lymphomas. The complexity of the molecular changes underlying the malignant diseases and the relevance of this to their sensitivity or resistance to therapy is becoming apparent. This new knowledge has been accompanied by spectacular improvements in therapy. Inhibition of the B cell receptor signalling pathway has transformed the life expectancy in many patients with resistant chronic lymphocytic leukaemia and some of the B cell lymphomas resistant to other therapy. JAK2 inhibitors are improving the quality of life and survival in primary myelofibrosis. Survival in myeloma is improving remarkably with new proteasome inhibitory and immunomodulatory drugs. Life expectancy has also improved for patients with diseases such as thalassaemia major receiving multiple transfusions with the worldwide introduction of orally active iron chelating agents. New anticoagulants which directly inhibit at a single point in the coagulation cascade and rarely need monitoring are now used commonly in preference to warfarin for the treatment and prevention of arterial and venous thrombosis. These advances in knowledge have been incorporated as new text, diagrams and tables for this seventh edition. New multiple choice questions have been added to the website and short summary boxes are included at the end of each chapter
Originally posted 2021-07-22 16:44:42.
