Insights in Thalassemia: From Genomics to Clinical Practice PDF Download
Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Insights in Thalassemia: From Genomics to Clinical Practice PDF full book. Access full book title Insights in Thalassemia: From Genomics to Clinical Practice by Zarina Abdul Latiff. Download full books in PDF and EPUB format.
Author: Zarina Abdul Latiff
Publisher: Frontiers Media SA
ISBN: 283254486X
Category : Medical
Languages : en
Pages : 90
Get Book Here
Book Description
IN LOVING MEMORY of Dr. Zarina Abdul Latiff. Thalassemia is a genetically heterogenous group of hemoglobinopathy disorders, characterised by imbalanced production of the α-globin or β-globin subunits of hemoglobin. Although the causative genotype is a key determinant of disease severity, the clinical spectrum and phenotype are affected by secondary and tertiary genetic modifiers. The public health and clinical burden of the disease is apparent with 1.5% of the global population being carriers and an estimated 400,000 affected births annually, with the majority in lower-middle-income countries. Although diagnostics and clinical management have evolved over the last decade, there is still much to be addressed in terms prevention, utility of molecular diagnostics, treatment outcome and quality of life.
Author: Zarina Abdul Latiff
Publisher: Frontiers Media SA
ISBN: 283254486X
Category : Medical
Languages : en
Pages : 90
Get Book Here
Book Description
IN LOVING MEMORY of Dr. Zarina Abdul Latiff. Thalassemia is a genetically heterogenous group of hemoglobinopathy disorders, characterised by imbalanced production of the α-globin or β-globin subunits of hemoglobin. Although the causative genotype is a key determinant of disease severity, the clinical spectrum and phenotype are affected by secondary and tertiary genetic modifiers. The public health and clinical burden of the disease is apparent with 1.5% of the global population being carriers and an estimated 400,000 affected births annually, with the majority in lower-middle-income countries. Although diagnostics and clinical management have evolved over the last decade, there is still much to be addressed in terms prevention, utility of molecular diagnostics, treatment outcome and quality of life.
Author: Reena Das
Publisher: Biota Publishing
ISBN: 1615047255
Category : Science
Languages : en
Pages : 58
Get Book Here
Book Description
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.
Author: Cybellium
Publisher: Cybellium Ltd
ISBN: 1836795300
Category : Science
Languages : en
Pages : 277
Get Book Here
Book Description
Designed for professionals, students, and enthusiasts alike, our comprehensive books empower you to stay ahead in a rapidly evolving digital world. * Expert Insights: Our books provide deep, actionable insights that bridge the gap between theory and practical application. * Up-to-Date Content: Stay current with the latest advancements, trends, and best practices in IT, Al, Cybersecurity, Business, Economics and Science. Each guide is regularly updated to reflect the newest developments and challenges. * Comprehensive Coverage: Whether you're a beginner or an advanced learner, Cybellium books cover a wide range of topics, from foundational principles to specialized knowledge, tailored to your level of expertise. Become part of a global network of learners and professionals who trust Cybellium to guide their educational journey. www.cybellium.com
Author: Dhavendra Kumar
Publisher: Oxford University Press
ISBN: 0199720053
Category : Medical
Languages : en
Pages : 672
Get Book Here
Book Description
An important milestone in medicine has been the recent completion of the Human Genome Project. The identification of 30,000 genes and their regulatory proteins provides the framework for understanding the metabolic basis of disease. This advance has also laid the foundation for a broad range of genomic tools that have opened the way for targeted genetic testing in a number of medical disorders. This book is designed to be the first major text to discuss genomics-based advances in disease susceptibility, diagnosis, prognostication,and prediction of treatment outcomes in various areas of medicine. After building a strong underpinning in the basic concepts of genomics, the authors of this book, all leaders in the field, proceed to discuss a wide range of clinical areas and the applications now afforded by genomic analysis.
Author: Roberta Risoluti
Publisher: Frontiers Media SA
ISBN: 2889667626
Category : Science
Languages : en
Pages : 106
Get Book Here
Book Description
Author: Muhammad Sarwar Khan
Publisher: CRC Press
ISBN: 1040056709
Category : Medical
Languages : en
Pages : 608
Get Book Here
Book Description
Applied Molecular Biotechnology: The Next Generation of Genetic Engineering explains state-of-the-art advances in the rapidly developing area of molecular biotechnology, the technology of the new millennium. Comprised of chapters authored by leading experts in their respective fields, this authoritative reference text:Highlights the latest omics-ba
Author: Dhavendra Kumar
Publisher: Elsevier
ISBN: 0323971997
Category : Science
Languages : en
Pages : 448
Get Book Here
Book Description
Genomics, Populations, and Society, a new volume in the Genomic and Precision Medicine in Clinical Practice series, considers the vast and thorny web of ELSI topics in genomics, from bioethics to healthcare applications, healthcare economics, genomic data management, and population dynamics. Emphasis is placed on the impact of rapid genomic advances on ethical, sociocultural and lifestyle dimensions. Healthcare and health economics topics include genomics and digital health, genome editing, and genomics and infectious disease management. Legal issues related to data ownership, equity, access, probity, consent, and confidentiality are also discussed in-depth, along with sociocultural topics such as community engagement, consanguinity, and more.Here, a range of readers from researchers to clinicians, policy administrators, lawyers, economists and social scientists will discover carefully crafted, synthesized discussions on ELSI topics in genomics to power new scientific advances and genomic medicine implementation. - Includes more than twenty-four chapters across five integrated sections on scientific dilemmas in genomics, genomic healthcare applications, sociocultural aspects of genomics, ethical aspects and global health genomics - Presents fundamental issues tied to biosociety, healthcare, law, and the bioeconomy as genomic medicine moves from research lab to the clinic - Features chapter contributions from international experts
Author: Urszula Demkow
Publisher: Academic Press
ISBN: 0128018410
Category : Science
Languages : en
Pages : 336
Get Book Here
Book Description
Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. - Fills the gap between state-of-the-art technology and evidence-based practice - Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment - Promotes a practical tool that clinicians can apply directly to patient care - Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases - Presents evidence regarding the important role of NGS in current diagnostic strategies
Author: Bruce R. Korf
Publisher: John Wiley & Sons
ISBN: 1118537661
Category : Medical
Languages : en
Pages : 280
Get Book Here
Book Description
This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.
Author: David J. Weatherall
Publisher: John Wiley & Sons
ISBN: 0470695943
Category : Medical
Languages : en
Pages : 864
Get Book Here
Book Description
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.
