ARTICLE
Integration of haematology malignancy diagnostics: the North Central London experience Improving the consistency and accuracy of laboratory diagnostics is the single most important way to improve outcomes for patients with haematological malignancies. There is widespread acceptance that diagnostic error is a major problem nationally when laboratory services are not fully integrated. Recent National Institute for Health and Care Excellence (NICE) guidance has been published and requests that all samples from patients with confirmed or suspected haematological malignancy be referred to laboratories that provide a fully integrated service and a single integrated report.
Introduction to lysosomal storage disorders The lysosomal storage disorders are a group of 40 or so inherited disorders that individually are rare but collectively affect about one in 1000 individuals. They are multi-system diseases affecting adults and children and often involve deficient activity of lysosomal enzymes. This disturbs cellular homeostasis and leads to accumulation of the enzyme substrate, and subsequent organ damage. An increasing number of these disorders are treatable by enzyme replacement or substrate deprivation.
Immune thrombocytopenia Immune thrombocytopenia (ITP) is an autoimmune disorder characterised by low platelet count and abnormal bleeding. Major advances have been made both in the laboratory and clinical arenas over the past 10 years. We now understand the underlying pathophysiology much better than previously and new drugs (eg thrombopoietin receptor agonists) have been developed that have transformed the way in which this disease is managed. The presentation covered all these advances and provided background information about the epidemiology of ITP, its overall management and outlook for patients.
Genetic forms of iron deficiency anaemia Iron deficiency anaemia (IDA) is an acquired disease that affects over three billion people of all ages and is a major public health problem worldwide. Over the past 10 years significant advances have been made that have led to the recognition of new forms of IDA in non- bleeding and ‘high cost diet’-nourished individuals. Although these forms of anaemia are rare, these genetic forms of IDA should be investigated as they are refractory to classical oral or intravenous iron administration.
Iron overload in haemoglobinopathies Iron overload is a serious and known complication of regular blood transfusion in patients with sickle cell and thalasssaemia syndromes. Patients with thalassaemia major or sickle cell anaemia may develop iron
712 THE BIOMEDICAL SCIENTIST
Contortrostatin is a disintegrin from southern copperhead (Agkistrodon contortrix contortrix) venom that has been shown to inhibit cancer cell migration and invasion.
overload either due to regular transfusion or intermittent top-up transfusion given over many years. Patients with thalassaemia intermedia syndromes, however, are equally at risk of iron overload due not only to a simple increase in gastrointestinal iron absorption but also as a consequence of intermittent blood transfusions. The presentation covered the causes of iron overload and the pathological manifestations of excess iron overload, and the use and pitfalls of monitoring tests (eg ferritin) and quantitative measures of iron overload (eg magnetic resonance imaging [MRI] techniques).
Measuring new anticoagulants For more than 60 years, patients requiring long-term anticoagulation have primarily received treatment with vitamin K antagonists, most commonly warfarin. Within the past few years, direct-acting oral anticoagulants have been approved for use in a number of clinical settings, including treatment of atrial fibrillation (AF), currently the most common reason for long-term anticoagulation in the UK. These new agents are fast acting, with full anticoagulant effect within approximately two hours, compared to more than 48 hours with warfarin. Although these new anticoagulants have a predictable pharmacokinetic and pharmacodynamic effect, and are given without a requirement for routine monitoring, there are scenarios in which the presence or level of new oral anticoagulants in a patient’s blood may be relevant to the laboratory. These include detecting the effect of a new oral anticoagulant and measuring the concentration of a new oral anticoagulant; circumstances that were covered in the presentation
The influence of haemophilia on 20th-century politics
Haemophilia impacts not only on the affected individual but also, to varying degrees, on their family and friends. In one well-documented kindred, the impact has extended significantly further, with national and international consequences. The presentation examined the
wide-reaching social effects of haemophilia B in the descendants of Queen Victoria. It considers how concern for a child with a severe bleeding disorder in the Russian royal family resulted in the Tsar neglecting his leadership role during the First World War, paving the way for the Russian revolution and the rise of communism. It also considered how two men faced extraordinary family pressures, with consequences in both world wars, and the impact of medical conditions on the Spanish succession, and the lead up to the Spanish Civil War.
Current guidelines for testing inherited platelet disorders Inherited platelet disorders (IPD) are a heterologous group of defects in platelet function or number that manifest clinically as spontaneous mucocutaneous bleeding or pathological bleeding after surgery or trauma. The disorders are common but frequently show variable penetrance so that identification of affected individuals using clinical criteria may be difficult. Laboratory demonstration of abnormal platelet function or number assists diagnosis of IPD. However, laboratory testing may be hampered by the vulnerability of many tests to pre-analytical variables, poor standardisation of assay methodology, and difficulties in interpretation of complex assay outputs. The presentation focused on recent progress in improving the diagnostic pathways for IPD, with emphasis on the use of light transmission aggregation (LTA) assays for diagnosis and subclassification of inherited disorders of platelet function. This included a review of recent ISTH guidance on LTA methodology, including analytical protocols and choice, selection of agonist panels, and interpretation of results. The role of additional platelet assays (eg secretion assays) and emerging technologies (eg next-generation sequencing) for genetic diagnosis were also discussed.
Snake venoms and primary haemostasis Snake venoms are modified saliva and it is intriguing that their evolution unravelled many of the crucial steps in vertebrate
DECEMBER 2013
CDC/James Gathany
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