Synopsis
Paroxysmal nocturnal hemoglobinuria (PNH) was first recognized by a clinician in the mid-19th century. A mysterious syndrome that can combine in a single patient severe red blood cell destruction, life-threatening thrombosis, and marrow failure, PNH is now intimately understood at the level of the gene and proteins. The pathophysiology is related to absence of an entire class of cell surface proteins with highly distinctive biochemical and physical characteristics. All PNH patients show mutations or deletions within a single gene. PPIG-A, arising n a hemotopoietic stem cell. With sensitive assays based on the distinctive biochemistry of the disease, PNH clones can now be recognized in much larger numbers of patients, and small clones appear to exist in most normal individuals as well. These discoveries have enormous importance for the mechanism of disease and for fundamental cell biology.
PNH is the subject of a great deal of current research, highly illustrative of the mutually productive intersection of clinical studies and basic science, PNH and the GPI-Linked Proteins is the first book devoted to these important new findings.
Written by international experts in the field, this unique and timely volume will appeal to hematologists and oncologists with a clinical interest in this disease, as well as to basic biochemists, immunologists, and cell biologists studying this class of proteins.
Key Features
* Describes the clinical features of PNH: hemolysis, thrombosis, and aplastic anemia
* Explains the unusual mechanism of erythrocyte destruction
* Includes descriptions of the biochemistry of glycosylphosphoinoisitol-anchored proteins and of the anchor structure