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Pediatric Hematology : Methods and Protocols - Nicholas J. Goulden

Pediatric Hematology

Methods and Protocols

By: Nicholas J. Goulden (Editor), Colin G. Steward (Editor)

Hardcover Published: 29th September 2003
ISBN: 9781588290434
Number Of Pages: 272

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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.

"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

Prefacep. v
Contributorsp. xi
Bone Marrow Failure Syndromes
Molecular Diagnosis of Fanconi Anemia and Dyskeratosis Congenitap. 3
Molecular Diagnosis of Diamond-Blackfan Anemiap. 19
Red Blood Cell Disorders
Antenatal Diagnosis of Hemoglobinopathiesp. 33
Platelet and Hemostatic Disorders
Prenatal Diagnosis of Hemophiliap. 65
Human Platelet Antigen Genotyping by PCR-SSP in Neonatal/Fetal Alloimmune Thrombocytopeniap. 71
Multiplex PCR for the Detection of the Factor V Leiden and Prothrombin 20210A Mutationsp. 79
Molecular Diagnosis of Congenital Immunodeficiencyp. 91
Acute Leukemia
Molecular Techniques to Improve Outcome in Childhood ALLp. 111
Molecular Cytogenetics in Childhood Leukemiap. 123
Fluorescent IgH Fingerprinting to Assess Minimal Residual Disease in Childhood B-Lineage ALLp. 139
Real-Time Quantitative RT-PCR to Detect Fusion Gene Transcripts Associated With AMLp. 151
Real-Time PCR to Detect Minimal Residual Disease in Childhood ALLp. 175
Oligonucleotide Microarray Analysis of Gene Expression in Leukemiap. 183
Bone Marrow Transplantation
HLA Low-Resolution Genotyping for Hematopoietic Stem Cell Transplantationp. 199
DNA Sequencing as a Tissue-Typing Toolp. 233
Analysis of Chimerism After Stem Cell Transplantationp. 247
Indexp. 265
Table of Contents provided by Ingram. All Rights Reserved.

ISBN: 9781588290434
ISBN-10: 1588290433
Series: Methods in Molecular Medicine
Audience: Professional
Format: Hardcover
Language: English
Number Of Pages: 272
Published: 29th September 2003
Publisher: Humana Press Inc.
Country of Publication: US
Dimensions (cm): 23.5 x 15.5  x 2.41
Weight (kg): 1.28