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Main description:
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.
Contents:
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
PRODUCT DETAILS
Publisher: Springer (Humana Press Inc.)
Publication date: August, 2013
Pages: 272
Weight: 425g
Availability: Available
Subcategories: Paediatrics and Neonatal
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