| Title | Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies |
| Author(s) | Stephan Lobitz, Jacques Elion, Raffaella Colombatti, Elena Cela |
| Publisher | MDPI |
| Year | 2019 |
| Edition | 1st Edition |
| Language | English |
| Pages | 170 pages |
| ISBN | 9783039210505 |
| Genre / Domain | Medicine, Pediatrics, Public Health |
| Series | International Journal of Neonatal Screening (Special Issue) |
| Size | 8.56 MB |
| Extension |
Summary
Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening, published in 2019 by MDPI. Edited by a distinguished team of experts including Stephan Lobitz, Jacques Elion, Raffaella Colombatti, and Elena Cela, this volume provides a comprehensive overview of newborn screening programs for sickle cell disease and other haemoglobinopathies. Sickle cell disease is one of the most prevalent inherited blood disorders worldwide, significantly affecting healthcare systems due to its high morbidity and mortality rates when left undiagnosed. This collection highlights the critical importance of early diagnosis through newborn screening to prevent fatal complications and lengthy diagnostic journeys.
The book covers a wide range of topics related to the diagnosis and management of haemoglobinopathies in newborns. It provides an overview of the diagnostic standards for newborn screening, including the latest laboratory techniques and quality assurance measures. The volume also presents examples of existing screening programs from various countries, offering insights into the different approaches and challenges faced in implementing and maintaining these programs. The contributions discuss the public health impact of newborn screening, the importance of follow-up and early intervention, and the role of genetic counseling in supporting families.
Practical applications of the knowledge presented in this volume are significant for healthcare professionals and policymakers. The book provides evidence-based guidance on the design, implementation, and evaluation of newborn screening programs for sickle cell disease. It discusses the benefits of early diagnosis, including the prevention of life-threatening infections, the initiation of prophylactic penicillin, and the provision of comprehensive care. The examples of successful screening programs offer valuable lessons for countries looking to establish or improve their own screening initiatives.
This volume is an essential resource for healthcare professionals, researchers, and policymakers involved in newborn screening, pediatric hematology, and public health. It is particularly valuable for those working in regions with a high prevalence of sickle cell disease and other haemoglobinopathies. The comprehensive coverage and expert contributions make it a key reference for understanding the current state of newborn screening for these conditions.
As a Special Issue of a peer-reviewed journal, this volume has undergone rigorous scientific review and represents the highest standards of academic publishing. The editors and contributors are recognized experts in the field, ensuring the reliability and relevance of the content. This volume remains an important resource for advancing the prevention and management of sickle cell disease and other haemoglobinopathies through newborn screening.
Key Features
- Provides a comprehensive overview of newborn screening for sickle cell disease and other haemoglobinopathies.
- Edited by a distinguished team of experts in the field.
- Covers diagnostic standards, laboratory techniques, and quality assurance measures.
- Presents examples of existing screening programs from various countries.
- Discusses the public health impact of newborn screening.
- Addresses the importance of follow-up, early intervention, and genetic counseling.
- Provides evidence-based guidance for the design and implementation of screening programs.
- Includes contributions from leading researchers and clinicians.
- Published as a Special Issue of the International Journal of Neonatal Screening.
- Published by MDPI, a reputable open-access publisher.
- Serves as an essential resource for healthcare professionals, researchers, and policymakers.
- Offers valuable lessons for countries establishing or improving screening programs.
About the Editors
Stephan Lobitz is a pediatrician and researcher specializing in sickle cell disease and newborn screening. He has made significant contributions to the understanding and management of haemoglobinopathies and has been involved in the development of screening programs.
Jacques Elion is a distinguished researcher in the field of sickle cell disease and haemoglobinopathies. He has published extensively on the molecular biology and clinical management of these conditions and is recognized as a leading expert in the field.
Raffaella Colombatti is a pediatric hematologist with expertise in the clinical management and research of sickle cell disease. She has contributed to the development of clinical guidelines and has been actively involved in patient care and advocacy.
Elena Cela is a pediatrician and researcher with a focus on newborn screening and the management of inherited blood disorders. She has contributed to the improvement of screening programs and the care of affected children.
Related Books
- Newborn Screening: A Guide for Healthcare Professionals — The National Newborn Screening and Global Resource Center
- Sickle Cell Disease: A Guide for Patients and Families — Nancy Keene
- Haemoglobinopathies: Diagnosis and Management — John M. Old, David J. Weatherall
- Pediatric Hematology — Susan B. Shurin, William R. L. W. A. M. A. L. A.
- Public Health Genomics: The Essentials — Claudia N. Mikail, Robert C. Green
- Genetics and Public Health in the 21st Century — Muin J. Khoury, Wylie Burke, Elizabeth Thomson
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Frequently Asked Questions
Q : What is the main focus of this book?
R : This Special Issue provides a comprehensive overview of newborn screening programs for sickle cell disease and other haemoglobinopathies, covering diagnostic standards, international program examples, and the importance of early diagnosis.
Q : Who are the editors and what are their credentials?
R : The editors are Stephan Lobitz, Jacques Elion, Raffaella Colombatti, and Elena Cela, all recognized experts in pediatric hematology, sickle cell disease, and newborn screening with extensive research and clinical experience.
Q : What topics are covered in this volume?
R : The volume covers diagnostic standards, laboratory techniques, quality assurance, examples of existing screening programs, public health impact, early intervention, and genetic counseling for haemoglobinopathies.
Q : Who is the target audience for this book?
R : The book is designed for healthcare professionals, researchers, and policymakers involved in newborn screening, pediatric hematology, and public health, particularly those working in regions with a high prevalence of sickle cell disease.
Q : What is the publication year and publisher?
R : This volume was published in 2019 by MDPI as a Special Issue of the International Journal of Neonatal Screening.
Q : How does this book help healthcare professionals?
R : The book provides evidence-based guidance on the design, implementation, and evaluation of newborn screening programs, including the benefits of early diagnosis and the prevention of life-threatening complications.
Q : Is the book available in digital format?
R : Yes, the book is available in PDF format, making it accessible for digital reading and reference.
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