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Amyloidosis is a rare group of disorders with protean manifestations characterized by tissue deposition of misfolded protein. Removal of such deposits is poor, resulting in progressive accumulation of amyloid deposits and disruption of organ function. Among patients with systemic amyloidosis, AL-type protein is more common than AA (secondary amyloidosis), which is caused by chronic infection or chronic...
Aplastic anaemia (AA), a rare but serious form of bone marrow failure (BMF), is characterized by pancytopenia with a hypocellular bone marrow. The pathophysiology of acquired AA is predominantly immunologically mediated, with damage to haemopoietic stem cells by autoreactive lymphocytes. The aberrant immune response can be triggered by environmental triggers, such as drugs, toxins, chemicals and viral...
Non-Hodgkin lymphoma (NHL) is the sixth most common cancer in the UK and represents a heterogenous group of malignancies. This article gives a brief overview of current classification of B and T cell NHL, the increased understanding of molecular and cytogenetic abnormalities associated with their pathogenesis, as well as current management principles. Although advances in immuno-chemotherapy and supportive...
The Philadelphia-negative myeloproliferative neoplasms, polycythaemia vera, essential thrombocythaemia and myelofibrosis, are uncommon clonal haematological malignancies generally diagnosed from late middle age onwards, although they can occur in children and young adults. Each of these disorders has unique features, but their clinical courses have similarities, including thrombosis, haemorrhage,...
The myelodysplastic syndromes (MDS) are clonal disorders of haemopoiesis. They share characteristic morphological abnormalities of the blood and bone marrow and a risk of evolution to acute leukaemia, which varies depending on the subtype of MDS. Most patients are elderly and present with symptoms of marrow failure despite increased marrow cellularity. The World Health Organization revised the classification...
Plasma cell disorders result from a clonal proliferation of bone marrow plasma cells and range from relatively benign monoclonal gammopathy of undetermined significance (MGUS) to malignant myeloma. Serum or urine monoclonal protein is usually detectable. MGUS is asymptomatic but can progress to myeloma or lymphoma. Myeloma is generally a disease of elderly individuals and presents with variable problems...
Systemic disease has protean manifestations. Most frequently observed is anaemia of chronic disease, anaemia can also be autoimmune, microangiopathic, mechanical or caused by haematinic deficiency, bone marrow replacement or pure red cell aplasia. The platelet count can be increased or decreased. The number of neutrophils, eosinophils, monocytes and lymphocytes can be increased, but neutropenia, eosinopenia...
Chronic lymphocytic leukaemia (CLL) is the most common leukaemia in developed countries. It is a disease of the elderly, usually incurable and characterized by significant clinical and biological heterogeneity. Many patients are diagnosed after the incidental finding of a sustained lymphocytosis, while others present with symptomatic disease requiring treatment. Clinical features arise from immune...
Rapid developments within the field of stem cell transplantation have occurred over the last few decades. Improvements in conditioning regimens coupled with advances in supportive and anti-infective care have correlated, in general, with improved survival compared with historical cohorts. Increasing use of alternative donor sources, such as umbilical cord blood and haploidentical stem cells, has permitted...
The acute leukaemias consist of acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML). ALL occurs predominantly in children whereas AML occurs mainly in elderly individuals. They can present as medical emergencies such as neutropenic sepsis, hyperleucocytosis and coagulopathy. Whereas 80% of children with ALL are cured, the outcomes for most AML patients remain poor, and treatment...
Chronic myeloid leukaemia (CML) is a clonal myeloproliferative disorder resulting from a reciprocal translocation between the long arms of chromosomes 9 and 22. This is termed the Philadelphia chromosome, and leads to production of the fusion onco-protein BCR-ABL, a 210 kDa constitutively active tyrosine kinase. CML has three distinct phases: the chronic, accelerated and blast phases. Most patients...
Hodgkin lymphoma typically presents as a painless mass and can be subclassified into classical and nodular lymphocyte-predominant forms, each of which has characteristic age of incidence peaks. Most patients who develop Hodgkin lymphoma can now be cured. In view of this, therapy adapted to interim positron emission tomography/computed tomography response has been shown as effective to identify: (1)...
This article presents emergency management from scenarios across haematology. Patients with haematologic emergencies can have significant associated co-morbidities and can be daunting to doctors who have previously not encountered these clinical situations. Diagnosis requires a degree of familiarity with laboratory data interpretation and good bed-side skills in management of a sick patient. This...
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