Macrothrombocytopenia - Open Access .click

Results 111 to 120 of about 3,635 (200)

Chronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorders

, 1997
We studied 47 subjects belonging to 13 unrelated families with a history of mild haemorrhagic diathesis and chronic thrombocytopenia. 36 patients presented some degree of thrombocytopenia: 7/36 (19%) had slight thrombocytopenia (100-150 x 10(9)/L); 26/36
VALENTE, MARIALUISA +6 more
core

Epstein syndrome with rapid progression to end stage renal disease

Saudi Journal of Kidney Diseases and Transplantation, 2009
The association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro ...
Alhindawi Esam, Al-Jbour Samah
doaj

CO40 | The co-inheritance of two ITGB3 variants exerting additive detrimental effects on platelets leads to variant Glanzmann thrombasthenia

Bleeding, Thrombosis and Vascular Biology
Background and Aims: Glanzmann thrombasthenia (GT) is an autosomal recessive platelet disorder with reduced αIIbβ3 expression or function and normal platelet count, caused by a reduced expression or dysfunction of integrins αIIb or β3 encoded by the ...
doaj +1 more source

Novel ABCG8 Mutation in Pediatric Sitosterolemia: A Case Report of Siblings with Hemolytic Anemia. [PDF]

Hematol Transfus Cell Ther
Saha S, Dolai TK, Ghosh K, Jajodia E.
europepmc +1 more source

Assessing bleeding risk by thromboelastography when automated platelet count fails due to giant platelets. [PDF]