Full 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
Bone Marrow Failure Syndromes.- Molecular Diagnosis of Fanconi Anemia and Dyskeratosis Congenita.- Molecular Diagnosis of Diamond-Blackfan Anemia.- Red Blood Cell Disorders.- Antenatal Diagnosis of Hemoglobinopathies.- Platelet and Hemostatic Disorders.- Prenatal Diagnosis of Hemophilia.- Human Platelet Antigen Genotyping by PCR-SSP in Neonatal/Fetal Alloimmune Thrombocytopenia.- Multiplex PCR for the Detection of the Factor V Leiden and Prothrombin 20210A Mutations.- Immunodeficiency.- Molecular Diagnosis of Congenital Immunodeficiency.- Acute Leukemia.- Molecular Techniques to Improve Outcome in Childhood ALL.- Molecular Cytogenetics in Childhood Leukemia.- Fluorescent IgH Fingerprinting to Assess Minimal Residual Disease in Childhood B-Lineage ALL.- Real-Time Quantitative RT-PCR to Detect Fusion Gene Transcripts Associated With AML.- Real-Time PCR to Detect Minimal Residual Disease in Childhood ALL.- Oligonucleotide Microarray Analysis of Gene Expression in Leukemia.- Bone Marrow Transplantation.- HLA Low-Resolution Genotyping for Hematopoietic Stem Cell Transplantation.- DNA Sequencing as a Tissue-Typing Tool.- Analysis of Chimerism After Stem Cell Transplantation.
