Haemoglobinopathy Diagnosis

An updated, essential guide for the laboratory diagnosis of haemoglobin disorders This revised and updated third edition of Haemoglobinopathy Diagnosis offers a comprehensive review of the practical information needed for an understanding of the laboratory diagnosis of haemoglobin disorders. Written in a concise and approachable format, the book includes an overview of clinical and laboratory features of these disorders. The author focuses on the selection, performance, and interpretation of the tests that are offered by the majority of diagnostic laboratories. The book also explains when more specialist tests are required and explores what specialist referral centres will accomplish. The information on diagnosis is set in a clinical context. The third edition is written by a leading haematologist with a reputation for educational excellence. Designed as a practical resource, the book is filled with illustrative examples and helpful questions that can aide in the retention of the material presented. Additionally, the author includes information on the most recent advances in the field. This important text: • Contains a practical, highly illustrated, approach to the laboratory diagnosis of haemoglobin disorders • Includes “test-yourself” questions and provides an indispensable tool for learning and teaching • Presents new material on antenatal screening/prenatal diagnostic services • Offers myriad self-assessment case studies that are ideal for the trainee Written for trainees and residents in haematology, practicing haematologists, and laboratory scientists, Haemoglobinopathy Diagnosis is an essential reference and learning tool that provides a clear basis for understanding the diagnosis of haemoglobin disorders.

Aktualisiertes Referenzwerk für die laborgestützte Diagnose von Hämoglobinstörungen Die überarbeitete und aktualisierte 2. Auflage von Haemoglobinopathy Diagnosis bietet umfassende praxisorientierte Informationen zur fundierten laborgestützten Diagnose von Hämoglobinstörungen. Dieses prägnante Fachbuch zeigt die klinischen Eigenschaften der Erkrankung und liefert wertvolle Hilfestellung für Laborwissenschaftler. Der Autor legt den Schwerpunkt auf die Auswahl, Leistungsfähigkeit und Interpretation von Testverfahren, die in den meisten Labors zum Einsatz kommen. Das Fachbuch erläutert, wann spezielle Tests erforderlich sind und welche Leistungen von spezialisierten Referenzzentren angeboten werden. Informationen zur Diagnostik werden in einen klinischen Kontext gestellt. Die 3. Auflage wurde von einem führenden Hämatologen mit Erfahrung im Lehrbetrieb geschrieben. Das Praktikerbuch enthält anschauliche Beispiele und Fragen zur Selbstüberprüfung des Lehrstoffes. Hinzu kommen Informationen zu den jüngsten Entwicklungen in dem Fachgebiet. - Praxisorientiertes Fachbuch mit einer Fülle von Illustrationen zur laborgestützten Diagnose von Hämoglobinstörungen. - Enthält Fragen zur Selbstüberprüfung des Gelernten. Auch für Dozenten sind die Fragen ein gutes didaktisches Hilfsmittel. - Präsentiert neue Inhalte zu pränatalen Screenings und zur pränatalen Diagnostik. - Bietet eine Fülle von Fallstudien, ideal für den angehenden Facharzt. Dieses Fachbuch richtet sich angehende Fachärzte in der Hämatologie, Hämatologen und Laborwissenschaftler. Haemoglobinopathy Diagnosis ist Referenzwerk und Lehrbuch zugleich, das alle Facetten der Diagnose von Hämoglubinstörungen abdeckt.

Variant Haemoglobins – A Guide to Identification is based on the premise that any single diagnostic technique offers only a very provisional identification of a variant haemoglobin. In routine diagnostic practice two techniques are needed as a minimum, with the results being interpreted in the light of the clinical details, blood count, blood film and ethnic origin. This book covers 150 normal and variant haemoglobins that have been studied and carefully documented. Variant Haemoglobins has four introductory chapters followed by an invaluable atlas. The introductory chapters cover the genetics of haemoglobin synthesis the principles of tests employed for identification common haemoglobins of major clinical or diagnostic importance thalassaemias and related conditions The atlas section comprises 170 full colour pages in which each variant haemoglobin or combination of haemoglobins is illustrated by cellulose acetate electrophoresis at alkaline pH, agarose gel electrophoresis at acid pH, isoelectric focusing and one or more HPLC traces. For ease of reference, the atlas pages are arranged according to the retention time of each haemoglobin on HPLC, this becoming increasingly the primary technique employed in haemoglobin identification. Bringing a mix of necessary scientific expertise and clinical knowledge, each author has more than 30 years experience in the diagnosis of variant haemoglobins. Providing otherwise unavailable information, this unique and practical guide is illustrated with over 700 high quality colour digital images plus flow charts and line diagrams covers common and important haemoglobin variants, in addition to many rarer ones is an essential reference source for diagnosis in the haematology laboratory A remarkably useful book, Variant Haemoglobins will be valuable for haematopathologists, clinical and laboratory haematologists in practice and in training and all laboratory staff involved in haemoglobinopathy diagnosis.

Volume 1 of the Prevention Book presents the principles of a programme for the prevention of the thalassaemia and other haemoglobin disorders, including a description of the various types of disorders requiring prenatal diagnosis, the strategies used for carrier screening, and a number of annexes listing upto date epidemiological and mutation data on thalassaemia. This book was written for use in combination with Volume 2, which describes many of the laboratory protocols in great detail.

An updated, essential guide for the laboratory diagnosis of haemoglobin disorders This revised and updated third edition of Haemoglobinopathy Diagnosis offers a comprehensive review of the practical information needed for an understanding of the laboratory diagnosis of haemoglobin disorders. Written in a concise and approachable format, the book includes an overview of clinical and laboratory features of these disorders. The author focuses on the selection, performance, and interpretation of the tests that are offered by the majority of diagnostic laboratories. The book also explains when more specialist tests are required and explores what specialist referral centres will accomplish. The information on diagnosis is set in a clinical context. The third edition is written by a leading haematologist with a reputation for educational excellence. Designed as a practical resource, the book is filled with illustrative examples and helpful questions that can aide in the retention of the material presented. Additionally, the author includes information on the most recent advances in the field. This important text: • Contains a practical, highly illustrated, approach to the laboratory diagnosis of haemoglobin disorders • Includes “test-yourself” questions and provides an indispensable tool for learning and teaching • Presents new material on antenatal screening/prenatal diagnostic services • Offers myriad self-assessment case studies that are ideal for the trainee Written for trainees and residents in haematology, practicing haematologists, and laboratory scientists, Haemoglobinopathy Diagnosis is an essential reference and learning tool that provides a clear basis for understanding the diagnosis of haemoglobin disorders.

Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.

Haematology Diagnostic haematology requires the assessment of clinical and laboratory data together with a careful morphological assessment of cells in blood, bone marrow and tissue ­fluids. Subsequent investigations including flow cytometry, immunohistochemistry, cytogenetics and molecular studies are guided by the original morphological findings. These targeted investigations help generate a prompt unifying diagnosis. Haematology: From the Image to the Diagnosis presents a series of cases illustrating how skills in morphology can guide the investigative process. In this book, the authors capture a series of images to illustrate key features to recognize when undertaking a morphological review and show how they can be integrated with supplementary information to reach a final diagnosis. Using a novel format of visual case studies, this text mimics ‘real life’ for the practising diagnostic haematologist – using brief clinical details and initial microscopic morphological triage to formulate a differential diagnosis and a plan for efficient and economical confirmatory investigation to deduce the correct final diagnosis. The carefully selected, high-quality photomicrographs and the clear, succinct descriptions of key features, investigations and results will help haematologists, clinical scientists, haematology trainees and haematopathologists to make accurate diagnoses in their day-to-day work. Covering a wide range of topics, and including paediatric as well as adult cases, Haematology: From the Image to the Diagnosis is a succinct visual guide which will be welcomed by consultants, trainees and scientists alike.

Obstetric hematology is a fast-growing area of medicine covering the diagnosis and management of hematological problems of pregnancy. Comprehensive in approach, The Obstetric Hematology Manual addresses the many hematological conditions that can cause serious problems in pregnancy, delivery and the post-partum period for both mother and baby. Written by a team of international authorities, this text provides up-to-date, evidence-based guidelines on best care, as well as sound advice based on the experience and opinion of experts. Where appropriate, basic principles are discussed to clarify the rationale for management, and systems and procedures for disease prevention are highlighted. Many conditions and cases are discussed, including venous thromboembolism, pre-eclampsia, anemia, thrombocytopenia and inherited disorders. This book will appeal to both trainees and practitioners in obstetrics, obstetric medicine, obstetric anesthesia and hematology. It is also an accessible text for midwives, nurses, and laboratory staff.