Molecular Genetics Of Thalassemia Syndromes
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Molecular Genetics Of Thalassemia Syndromes
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Author : Reena Das
language : en
Publisher: Biota Publishing
Release Date : 2016-08-01
Molecular Genetics Of Thalassemia Syndromes written by Reena Das and has been published by Biota Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-08-01 with Science categories.
This book reviews the molecular genetics of the thalassemia syndromes, inherited hemoglobin disorders that comprise the commonest monogenic disorders globally. Thalassemias are found in high frequencies in tropical regions corresponding to the malaria belt. Beta thalassemia traits show high HbA2 by HPLC, and β-globin mutations (commonly point mutations) are detected by using ARMS-PCR, reverse dot-blot analysis and β-globin gene sequencing. Globally >300 β globin gene mutations exist, however regional mutations are limited to 5-6 common ones. Alpha globin gene defects can only be identified by molecular tests, the exception being HbH disease that shows "golf ball" appearance in HbH preparation, pre-integration peaks on HPLC and a fast-moving band on hemoglobin electrophoresis. Multiplex Gap-PCR identifies common α-globin gene deletions. Specific PCR across the junction caused by the unequal crossing over can detect α-gene triplication. However, heterozygosity or homozygous triplication cannot be resolved by this technique. Non-deletional α-thalassemia can be characterized by specific α-globin gene sequencing. Identification of unusual deletions requires Multiplex Ligation-dependent Probe Amplification. In conclusion, the molecular characterization of human globin gene disorders is required to resolve the phenotypically heterogeneous thalassemia syndromes. Molecular analysis is also an important tool to prevent these disorders by offering prenatal screening in regions with a high disease burden.
The Thalassaemia Syndromes
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Author : David J. Weatherall
language : en
Publisher: John Wiley & Sons
Release Date : 2008-04-30
The Thalassaemia Syndromes written by David J. Weatherall and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2008-04-30 with Medical categories.
In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clinical features, cellular pathology, molecular genetics, prevention and treatment. It is aimed at specialists in haematology in the laboratory or clinical setting, particularly in areas where thalassaemia is common either in the native population or in immigrant communities. The fourth edition has been both updated and re-organized. Three new chapters have been added on the link between alpha-thalassaemia and mental retardation, on avoidance and population control and on global epidemiology. Considerable emphasis is placed on molecular pathology reflecting the huge burst of information to have come out of this field in the last few years.
The Thalassaemia Syndromes
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Author : D. J. Weatherall
language : en
Publisher:
Release Date : 1965
The Thalassaemia Syndromes written by D. J. Weatherall and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1965 with Thalassemia categories.
The Thalassaemia Syndromes
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Author : David John Weatherall
language : en
Publisher:
Release Date : 1972
The Thalassaemia Syndromes written by David John Weatherall and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1972 with Thalassemia categories.
In the new edition of this successful and authoritative book, the thalassaemias are reviewed in detail with respect to their clinical features, cellular pathology, molecular genetics, prevention and treatment. It is aimed at specialists in haematology in the laboratory or clinical setting, particularly in areas where thalassaemia is common either in the native population or in immigrant communities. The fourth edition has been both updated and re-organized. Three new chapters have been added on the link between alpha-thalassaemia and mental retardation, on avoidance and population control and on global epidemiology. Considerable emphasis is placed on molecular pathology reflecting the huge burst of information to have come out of this field in the last few years.
Cardiovascular Genetics And Genomics
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Author : Dhavendra Kumar
language : en
Publisher: Springer
Release Date : 2018-01-17
Cardiovascular Genetics And Genomics written by Dhavendra Kumar and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-01-17 with Medical categories.
This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.
Prevention Of Thalassaemias And Other Haemoglobin Disorders
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Author : Galanello Renzo
language : en
Publisher:
Release Date : 2003
Prevention Of Thalassaemias And Other Haemoglobin Disorders written by Galanello Renzo and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003 with categories.
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.
Disorders Of Hemoglobin
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Author : Martin H. Steinberg
language : en
Publisher: Cambridge University Press
Release Date : 2009-08-17
Disorders Of Hemoglobin written by Martin H. Steinberg and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-08-17 with Medical categories.
Completely revised new edition of the definitive reference on disorders of hemoglobin.
Talasemijski Sindromi Molekularna Genetika U Savremenoj Dijagnostici
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Author : Sonja Pavlović
language : en
Publisher:
Release Date : 2006
Talasemijski Sindromi Molekularna Genetika U Savremenoj Dijagnostici written by Sonja Pavlović and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006 with categories.
Inherited Hemoglobin Disorders
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Author : Anjana Munshi
language : en
Publisher: BoD – Books on Demand
Release Date : 2015-11-11
Inherited Hemoglobin Disorders written by Anjana Munshi and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-11-11 with Medical categories.
The book, Inherited Hemoglobin Disorders, describes the genetic defects of hemoglobins, disease complications, and therapeutic strategies. This book has two distinct sections. The first theme includes seven chapters devoted to the types of hemoglobinopathies, mutation spectrum, diagnostic methods, and disease complications, and the second theme includes three chapters focusing on various treatment strategies. The content of the chapters presented in the book is guided by the knowledge and experience of the contributing authors. This book serves as an important resource and review to the researchers in the field of hemoglobinopathies.
The Obstetric Hematology Manual
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Author : Sue Pavord
language : en
Publisher: Cambridge University Press
Release Date : 2010-04-15
The Obstetric Hematology Manual written by Sue Pavord and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-04-15 with Medical categories.
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.