Molecular basis of inherited thrombocytopenias
نویسندگان
چکیده
منابع مشابه
Molecular basis of inherited thrombocytopenias.
Inherited thrombocytopenias (IT) are a heterogeneous group of diseases caused by at least 20 different genes. At present, these genes account for approximately 50% of cases, suggesting that novel genes have yet to be identified for a comprehensive understanding of platelet biogenesis defects. This review provides an update of ITs focusing on the molecular basis and potential pathogenic mechanis...
متن کاملInherited thrombocytopenias.
Bleeding syndromes that arise through an inherited defect of platelet production constitute a heterogeneous group of rare platelet disorders of growing importance. Some, including the Bernard-Soulier syndrome (BSS) and Wiskott-Aldrich syndrome (WAS), associate a low circulating platelet count with a deficiency in a known functional protein (Table 1). In others, platelet dysfunction has not been...
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Secondary causes of thrombocytopenia as immunologic thrombopenia purpura, or ITP, are far more common than inherited causes, which even as a group, are rare. Nevertheless, diagnosis is important and progress made in uncovering the molecular basis of these disorders has contributed greatly to our knowledge of these diseases. Inherited thrombocytopenias are a heterogeneous group of disorders. Dif...
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Thrombocytopenia, defined as a platelet count less than 150,000 ml , is a common problem in clinical hematology. In most patients, the cause is secondary to an acquired autoimmune disorder, a systemic illness or infection, or an adverse drug effect. Inherited thrombocytopenias are relatively rare, but the identification of genetic mutations in patients with these disorders has contributed signi...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2015
ISSN: 0009-9163,1399-0004
DOI: 10.1111/cge.12607