Successful Eltrombopag Therapy in a Child with MYH9-Related Inherited Thrombocytopenia [PDF]
Children, 2022 Inherited thrombocytopenias represents a heterogenous group of diseases characterized by a congenital reduction in the platelet count that could lead to a bleeding tendency.
Giuseppe Lassandro +6 more
doaj +2 more sources
Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding [PDF]
Frontiers in Cardiovascular Medicine, 2019 Inherited thrombocytopenia (IT) is comprised of a group of hereditary disorders characterized by a reduced platelet count as the main feature, and often with abnormal platelet function, which can subsequently lead to impaired haemostasis.
Ibrahim Almazni +2 more
doaj +2 more sources
Inherited Thrombocytopenia Caused by Germline Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome [PDF]
Journal of Investigative Medicine High Impact Case Reports, 2020 Thrombocytopenia 2 (THC2) is an autosomal dominant disorder characterized by ankyrin repeat domain 26 mutation and moderate thrombocytopenia. THC2 exposes patients to a low risk of bleeding and an increased likelihood of myelodysplastic syndrome/acute ...
Tariq Kewan +4 more
doaj +2 more sources
Platelets, 2021 Inherited thrombocytopenias are a heterogeneous group of diseases characterized by a reduced number of platelets and a bleeding tendency that ranges from very mild to life threatening especially in surgery.
Nahla Ibrahim Zidan +5 more
exaly +2 more sources
Inherited thrombocytopenias—recent advances in clinical and molecular aspects
Platelets, 2017 Since the beginning of the century, our knowledge of inherited thrombocytopenias greatly advanced, and we presently know 30 forms with well-defined genetic defects.
Carlo Balduini +2 more
exaly +2 more sources
Potential biomarkers for inherited thrombocytopenia 2 identified by plasma proteomics
Platelets, 2022 Inherited thrombocytopenia 2 (THC2) is difficult to diagnose due to the lack of specific clinical characteristics and diagnostic methods. To identify potential plasma protein biomarkers for THC2, we collected the plasma samples from a THC2 family (9 THC2
Zhongjun Li, Maoshan Chen, Li Chen
exaly +2 more sources
Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia [PDF]
International Journal of Molecular Sciences, 2021 Jose Maria Bastida +2 more
exaly +2 more sources
Thrombopoietin receptor agonists for the treatment of inherited thrombocytopenia [PDF]
Haematologica, 2020 Michael Makris
doaj +2 more sources
Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia [PDF]
Clinical and Applied Thrombosis/Hemostasis, 2018 Zhenni Ma
exaly +2 more sources
BMC Medical Genetics, 2020 Background Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations.
Xin Li +7 more
doaj +1 more source