Genetics of inherited platelet disorders
| Autor: | Barbara Zieger, K. Sandrock-Lang, M. Gothwal |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
0301 basic medicine
Genetic Markers medicine.medical_specialty Platelet disorder Platelet Membrane Glycoproteins 030204 cardiovascular system & hematology Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine Molecular genetics medicine Humans Platelet Secretion Genetic Predisposition to Disease Genetic Testing Receptor business.industry Thrombocytopathia Mucous membrane Hematology Blood Coagulation Factors 030104 developmental biology medicine.anatomical_structure Molecular Diagnostic Techniques Immunology Blood Platelet Disorders Signal transduction business |
| Zdroj: | Hamostaseologie. 34(2) |
| ISSN: | 2567-5761 |
| Popis: | SummaryThe current review describes inherited platelet disorders, illustrates their clinical phenotype and molecular genetic defects. Platelets are the key molecules mediating haemostasis via adhesion, activation and clot formation at the site of injury. The inherited platelet disorders can be classified according to their platelet defects: receptor/cytoskeleton defects, secretion disorder, and signal transduction defect.Patients with inherited thrombocytopathia present with mucous membrane bleedings (epistaxis, gingival bleeding) and may present with serious life threatening bleedings following surgery or trauma. Therefore, biochemical and molecular genetic characterization of inherited platelet disorders is important to understand these disorders and to support an efficient therapy. |
| Databáze: | OpenAIRE |
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