Inherited thrombocytopenia with thrombasthenia
نویسندگان
چکیده
منابع مشابه
Thrombocytopenia Inherited as an Autosomal Dominant Trait.
IN CONTRAST to the hereditary disorders of red cells and white cells, inherited disorders of the platelets appear to be rare. Among the few reports of hereditary thrombocytopenia,1'4 some lack essential history or supporting laboratory data. Those which present more convincing evidence display a remarkable variety cf clinical features and genetic patterns. Only the so-called Aldrich syndrome7 e...
متن کاملInherited thrombocytopenia: when a low platelet count does not mean
http://bloodjournal.hematologylibrary.org/content/103/2/390.full.html Updated information and services can be found at: (58 articles) Reviews in Translational Hematology (2497 articles) Hemostasis, Thrombosis, and Vascular Biology (2975 articles) Hematopoiesis and Stem Cells Articles on similar topics can be found in the following Blood collections http://bloodjournal.hematologylibrary...
متن کاملInherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation.
Hereditary macrothrombocytopenia and prolonged bleeding times are associated with the recessive mouse pigment dilution gene gunmetal (gm). Other platelet abnormalities include a mild storage pool deficiency and abnormal expression of two low-molecular-weight guanosine triphosphate binding proteins. These studies were designed to further elucidate the cause of the macrothrombocytopenia. The life...
متن کاملWhole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Inherited thrombocytopenias are a heterogeneous group of disorders characterized by abnormally low platelet counts which can be associated with abnormal bleeding. Next-generation sequencing has previously been employed in these disorders for the confirmation of suspected genetic abnormalities, and more recently in the discovery of novel disease-causing genes. However its full potential has not ...
متن کاملAnalysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Pregnancy in women with inherited thrombocytopenias is a major matter of concern as both the mothers and the newborns are potentially at risk of bleeding. However, medical management of this condition cannot be based on evidence because of the lack of consistent information in the literature. To advance knowledge on this matter, we performed a multicentric, retrospective study evaluating 339 pr...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Pathology
سال: 1968
ISSN: 0021-9746
DOI: 10.1136/jcp.21.2.154