Pediatric Hematology: Methods and Protocols

ISBN-13: 9781489939241 / Angielski / Miękka / 2013 / 272 str.

Nicholas J. Goulden; Colin G. Steward

Opis

Much of the progress in the diagnosis, classification, and treatment of childhood hematological disorders has come from a partnership between clinicians and scientists. Indeed, access to molecular techniques is now an integral part of the practice of modern pediatric hematology. The aim of Pediatric Hematology: Methods and Protocols is to provide a collection of scientific protocols that cover the major aspects of the discipline. Most clinicians will be familiar with the difficulties inherent in establishing the underlying diagnosis in genetic marrow failure syndromes. A particular concern is failure to diagnose those associated with DNA repair defects. In Chapter 1, Dokal and colleagues present simple protocols for the molecular investigation of Fanconi anemia and dyskeratosis congenita. Molecular diagnosis is also important in children with congenital pure red cell aplasia, owing to the highly variable phenotype of this condition. In Chapter 2, Ball describes relevant protocols for the investigation of Diamond-Blackfan anemia. Hereditary hemoglobinopathy is a major cause of death and morbidity throughout the world. This area has seen great advances in screening and antenatal diagnosis. In Chapter 3, Old details protocols for the molecular diagnosis of most forms of hemoglobinopathy. High-quality, accurate molecular testing on small amounts of material has been fundamental to progress in antenatal diagnostics. The introduction to his comprehensive chapter includes a discussion of the general principles that underpin these studies. In contrast to hemoglobinopathy, severe hemophilia is uncommon.

Recenzje

"Pediatric Hematology, Methods and Protocols, is an excellent reference book for physicians and scientists who serve pediatric patients in the specialty of hematology. This book is a valuable technical manual for laboratory scientists to set up new diagnostic tests and to troubleshoot and improve their current diagnostic methods. It is also a very practical guideline for physicians to choose relevant tests to arrive at correct diagnoses in light of clinical history and symptoms. The book is well organized, concisely written, and easy to understand. To the best of my knowledge, no other book describes the molecular diagnostic methods of pediatric hematologic disorders in such detail. I highly recommend this book for laboratories of hematology and molecular diagnosis in hospitals serving pediatric patients." -Society for Pediatric Pathology

"The information in this book is clearly expressed...a useful and practical text for laboratory scientists..." - Journal of Pediatrics and Child Health

Spis treści

Part I. Bone Marrow Failure Syndromes Molecular Diagnosis of Fanconi Anemia and Dyskeratosis Congenita Alex J. Tipping, Tom J. Vulliamy, Neil V. Morgan, and Inderjeet Dokal Molecular Diagnosis of Diamond-Blackfan Anemia Sarah Ball and Karen Orfali Part II. Red Blood Cell Disorders Antenatal Diagnosis of Hemoglobinopathies John M. Old Part III. Platelet and Hemostatic Disorders Prenatal Diagnosis of Hemophilia David Stirling Human Platelet Antigen Genotyping by PCR-SSP in Neonatal/Fetal Alloimmune Thrombocytopenia Colin Hurd and Geoff Lucas Multiplex PCR for the Detection of the Factor V Leiden and Prothrombin 20210A Mutations Anne M. Sproul and Elizabeth A. Chalmers Part IV. Immunodeficiency Molecular Diagnosis of Congenital Immunodeficiency David Eastwood, Kimberly C. Gilmour, and Hubert B. Gaspar Part V. Acute Leukemia Molecular Techniques to Improve Outcome in Childhood ALL Frederik W. van Delft and Vaskar Saha Molecular Cytogenetics in Childhood Leukemia Christine J. Harrison, Helena Kempski, David W. Hammond, and Lyndal Kearney Fluorescent IgH Fingerprinting to Assess Minimal Residual Disease in Childhood B-Lineage ALL Paul A. S. Evans and Roger G. Owen Real-Time Quantitative RT-PCR to Detect Fusion Gene Transcripts Associated With AML Rajinder Flora and David Grimwade Real-Time PCR to Detect Minimal Residual Disease in Childhood ALL Cornelia Eckert and Olfert Landt Oligonucleotide Microarray Analysis of Gene Expression in Leukemia Frederik W. van Delft and Louise K. Jones Part VI. Bone Marrow Transplantation HLA Low-Resolution Genotyping for Hematopoietic Stem Cell Transplantation John Harvey, Jenny Price, and Ahna Stanton DNA Sequencing as a Tissue-Typing Tool Paul P. J. Dunn, Sarinder Day, Siaron Williams, and Nina Bendukidze Analysis of Chimerism After Stem Cell Transplantation Peter Bader and Hermann Kreyenberg Index

Blurb

Molecular techniques are now an integral part of the practice of modern pediatric hematology. In Pediatric Hematology: Methods and Protocols, hands-on masters of laboratory techniques describe their best methods for investigating and detecting a wide variety of hematological disorders. Here, the reader will find cutting-edge molecular protocols for the diagnosis of Fanconi anemia, dyskeratosis congenita, immunodeficiency, and most forms of hemoglobinopathy. In addition, there are detailed methods for molecular human platelet antigen genotyping, an effective PCR procedure for thrombophilia screening, and protocols for fluorescent in situ hybridization for cases in which insufficient metaphases are recovered or cryptic translocations are not visible. Since the measurement of minimal residual disease (MRD) provides a much more accurate risk-directed therapy, three methods are presented for detecting residual leukemia below the threshold of light microscopy, along with relatively simple, rapid, and inexpensive methods for the detection of MRD in ALL and AML. On the cutting-edge of technology, microarrays are used for the analysis of gene expression in childhood leukemia, and novel methods of graft engineering and reduced intensity conditioning regimens are applied to tissue typing for the assessment of donor/recipient chimerism. Each readily reproducible protocol is described in step-by-step detail and includes an introduction to the principle behind the method, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls.
Cutting-edge and highly practical, Pediatric Hematology: Methods and Protocols offers experimental and clinical investigators a gold-standard collection of reliable molecular techniques essential to the diagnosis, classification, and treatment of childhood hematological disorders.