Results 11 to 20 of about 13,796 (248)
A family case series of inherited thrombocytopenia. [PDF]
Proc (Bayl Univ Med Cent), 2023 Inherited thrombocytopenia (IT) is a heterogeneous group of diseases with a genetic origin. The primary symptom presented by patients is a reduced platelet count in the peripheral blood. Nevertheless, certain forms of IT are characterized by the occurrence of other congenital malformations or predisposition to acquire additional diseases.
Borkowski A +3 more
europepmc +3 more sources
Inherited thrombocytopenia with thrombasthenia [PDF]
Journal of Clinical Pathology, 1968 A family with congenital thrombocytopenia is described through four generations where the mode of inheritance appears to be an autosomal dominant. Spontaneous bruising of varying severity, menorrhagia, and profuse bleeding at operation necessitating transfusion were predominant in the history. Platelet function tests were performed on
N K, Sheth, T A, Prankerd
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RUNX1 Germline Mutation in a Patient with Chronic Thrombocytopenia
Clinical Pediatric Hematology-Oncology, 2021 One of the pathophysiologic mechanism of inherited thrombocytopenia is a defect in transcription factors that regulate the expression of multiple genes required for megakaryopoiesis.
Yujin Nam, Gyu Min Yeon, Seom Gim Kong
doaj +1 more source
Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial
Haematologica, 2020 Patients with inherited thrombocytopenias often require platelet transfusions to raise their platelet count before surgery or other invasive procedures; moreover, subjects with clinically significant spontaneous bleeding may benefit from an enduring ...
Carlo Zaninetti +13 more
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Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan [PDF]
Platelets, 2016 Neil V Morgan
exaly +2 more sources
Humanized mouse models for inherited thrombocytopenia studies
Platelets, 2023 Inherited thrombocytopenia (IT) is a group of hereditary disorders characterized by a reduced platelet count as the main clinical manifestation, and often with abnormal platelet function, which can subsequently lead to impaired hemostasis.
Xiaojie Wang +13 more
doaj +1 more source
Treatment of inherited thrombocytopenias
Haematologica, 2022 The new techniques of genetic analysis have made it possible to identify many new forms of inherited thrombocytopenias (IT) and study large series of patients. In recent years, this has changed the view of IT, highlighting the fact that, in contrast to previous belief, most patients have a modest bleeding diathesis.
openaire +3 more sources
Highly impaired platelet ultrastructure in two families with novel IKZF5 variants
Platelets, 2021 Heterozygous variants in the IKZF5 gene, encoding transcription factor Pegasus, were recently discovered to be causal of inherited thrombocytopenia (IT). We screened 90 patients suspected of inherited thrombocytopenia for variants in 101 genes associated
Eva Leinoe +5 more
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Platelets, 2022 ANKRD26 is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differentiation. ANKRD26-related thrombocytopenia, or thrombocytopenia 2, is an inherited thrombocytopenia with mild bleeding ...
Hrushikesh Vyas +5 more
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