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
doaj +2 more sources
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
doaj +2 more sources
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
doaj +2 more sources
[Familial platelet disorder with predisposition to myeloid leukemia (FPD/AML): a case report and literature review]. [PDF]
Zhonghua Xue Ye Xue Za Zhi, 2021 Zhang RR +4 more
europepmc +3 more sources
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy. [PDF]
Blood Adv, 2023 Yu K +15 more
europepmc +3 more sources
Coexistence of Immune Thrombocytopenic Purpura and Bernard-Soulier Syndrome: A Rare Pediatric Case Report [PDF]
International Medical Case Reports JournalSondus Alsharidah, Eman Almatar, Rania Lutfi, Omnia A Hashem Department of Hematology, NBK Specialized Children’s Hospital, Sabah, KuwaitCorrespondence: Eman Almatar, Department of Hematology, NBK Specialized Children’s Hospital, Sabah, Kuwait, Tel +965 ...
Alsharidah S +3 more
doaj +2 more sources
Inherited platelet disorders [PDF]
Haemophilia, 2012 Summary. Inherited diseases of the megakaryocyte lineage give rise to bleeding when platelets fail to fulfill their hemostatic function upon vessel injury. Platelet defects extend from the absence or malfunctioning of adhesion (GPIb‐IX‐V, Bernard–Soulier syndrome) or aggregation receptors (integrin αIIbβ3, Glanzmann thrombasthenia) to defects of ...
A T, Nurden, K, Freson, U, Seligsohn
openaire +4 more sources
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
doaj +1 more source
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