Genomics of bleeding disorders
نویسندگان
چکیده
منابع مشابه
Bleeding Disorders
Bleeding disorders are usually taken to mean coagulopathies with reduced clotting of the blood but also encompass disorders characterised by abnormal platelet function or blood vessel walls that result in increased bleeding. Bleeding disorders may result from faults at many different levels in the coagulation process. They can range from severe and life-threatening conditions, such as haemophil...
متن کاملGenomics of platelet disorders.
Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next-generation sequencing (NGS) technology has revolutionized the scale and cost-effectiveness of geneti...
متن کاملGenetics of Bleeding Disorders
Genetic bleeding disorders form an important presentation among various genetic disorders occurring in children. A prevalence of 6 per 100,000 population has been reported in India. Bleeding disorders constitute a heterogenous group of disorders with varying clinical presentations. The common bleeding disorders are Hemophilia A and B, von Willebrand disease, and inherited thrombocytopenias. In ...
متن کاملPathophysiology of bleeding disorders.
Bleeding disorders and thromboembolic diseases represent abnormalities of the hemostatic mechanism. As this mechanism is basically a defense device against the loss of blood from the vascular system, any serious breakdown can bring about life-threatening hemorrhages. The author describes the inherent problems involved in these cases; and since many of the recognized congenital and acquired blee...
متن کاملBleeding Disorders: Hemorrhagic Diatheses
Before discussing these specific bleeding disorders, it is helpful to review normal hemostasis ( Chapter 4 ) and the common laboratory tests used in the evaluation of a bleeding diathesis. It should be recalled from the discussion in Chapter 4 that the normal hemostatic response involves the blood vessel wall, the platelets, and the clotting cascade. Tests used to evaluate different aspects of ...
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ژورنال
عنوان ژورنال: Haemophilia
سال: 2014
ISSN: 1351-8216
DOI: 10.1111/hae.12424