Inherited platelet-based bleeding disorders
نویسندگان
چکیده
منابع مشابه
Platelet von Willebrand factor in inherited and acquired bleeding disorders.
The majority of plasma proteins involved in the mechanisms of hemostasis are loosely adsorbed on the platelet surface. A few of them, however, can also be measured in washed platelets, in which they are contained in the intracellular organelles called a granules. The main proteins involved in blood coagulation concentrated in platelets are von Willebrand factor (vWF), fibrinogen, and factor V. ...
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 کاملInherited 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 کاملControversies in Inherited Bleeding Disorders.
Recent years are witnessing key developments in treatment approaches for congenital bleeding disorders (CBD), in particular the hemophilias, but also other factor deficiencies.1,2 Moreover, cooperative multinational efforts are providing advances in our knowledge of pathophysiological, clinical, and management aspects of these disorders, including the more rare abnormalities.3–6 However, despit...
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...
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ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2003
ISSN: 1538-7933,1538-7836
DOI: 10.1046/j.1538-7836.2003.00266.x