منابع مشابه
Inherited platelet disorders.
The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology. In this section of the presentation we will review disorders of the platelet membrane, platelet granule packaging disorders, the ...
متن کاملGenetics of inherited platelet disorders.
The 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...
متن کاملInherited platelet disorders: toward DNA-based diagnosis.
Variations in platelet number, volume, and function are largely genetically controlled, and many loci associated with platelet traits have been identified by genome-wide association studies (GWASs).(1) The genome also contains a large number of rare variants, of which a tiny fraction underlies the inherited diseases of humans. Research over the last 3 decades has led to the discovery of 51 gene...
متن کاملDiagnosis and Management of Inherited Platelet Disorders.
In clinical daily practice the definition of a bleeding tendency is rather subjective. Clinical manifestations usually include hematoma, epistaxis, menorrhagia, and severe bleeding episodes after surgery or injuries. The most common causes are disorders of primary hemostasis that occur sometimes due to platelet function disorders. Inherited thrombocytopathies are much less frequent in compariso...
متن کاملInherited and Acquired Disorders of Platelet Function
Platelet function defects are caused by rare congenital or, more frequently, by acquired disorders. They may lead to bleeding or thrombotic tendencies despite of normal platelet counts. The corresponding symptoms are often quite heterogeneous. A disorder of platelet function is suspected on the basis of case and family history, physical examination and platelet function tests. The so far primar...
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ژورنال
عنوان ژورنال: Haemophilia
سال: 2012
ISSN: 1351-8216
DOI: 10.1111/j.1365-2516.2012.02856.x