Results 1 to 10 of about 112,923 (261)
Medich Giant Platelet Syndrome: An Evolving Qualitative and Quantitative Platelet Disorder [PDF]
Hematology Reports, 2022 Qualitative platelet disorders remain rare and varied. We describe here 2 additional patients with giant platelets, thrombocytopenia, deficiency in alpha granules and the presence of membranous inclusions within the cytoplasm.
Gita Massey +3 more
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MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER [PDF]
Mediterranean Journal of Hematology and Infectious DiseasesWe report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented
Paola Ranalli +3 more
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P1637: RISKS FOR A PLATELET COUNT DROP: COVID-19 & ITP DATA FROM THE PLATELET DISORDER SUPPORT ASSOCIATION (PDSA) PATIENT REGISTRY [PDF]
HemaSphere, 2022 J. DiRaimo +4 more
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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
Platelets, 2023 GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine.
Ana Marín-Quílez +5 more
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Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann's Thrombasthenia with Chronic Gingival Bleed: Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2016 Glanzmann’s Thrombasthenia (GT) is a rare autosomal recessive bleeding disorder affecting the megakaryocyte lineage and is characterized by lack of platelet aggregation on stimulation.
Abhishek Ghosh +3 more
doaj +1 more source
Frontiers in Pediatrics, 2022 Glanzmann thrombasthenia (GT) is a rare autosomal recessive platelet disorder due to a qualitative or quantitative anomaly of the platelet membrane glycoprotein GPIIb/IIIa. Its clinical manifestations include mild to severe bleeding.
Jian hua Li +9 more
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Bernard Soulier syndrome: A case report from Pakistan
Clinical Case Reports, 2023 Key Clinical Message Bernard Soulier Syndrome should be suspected in patients with bleeding disorder symptoms and significant family history, where consanguineous marriages are common.
Iqra Effendi +5 more
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A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder
Platelets, 2022 Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder confirmed with the presence of a pathogenic germline RUNX1 variant and is thought to be heavily underdiagnosed.
Ibrahim Almazni +9 more
doaj +1 more source
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
doaj +1 more source