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Books > Medicine > Clinical & internal medicine > Paediatric medicine
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Pediatric Hematology - Methods and Protocols (Paperback, Softcover reprint of the original 1st ed. 2004)
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Pediatric Hematology - Methods and Protocols (Paperback, Softcover reprint of the original 1st ed. 2004)
Series: Methods in Molecular Medicine, 91
Expected to ship within 10 - 15 working days
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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.
General
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