Results 11 to 20 of about 2,057 (172)

International Practices in Managing Preconception, Pregnancy and Childbirth in Women With Glanzmann Thrombasthenia: A Survey From the European Association of Haemophilia and Allied Disorders (EAHAD). [PDF]

Haemophilia
ABSTRACT Background Glanzmann thrombasthenia (GT) is an inherited platelet disorder resulting in severely reduced platelet aggregation and increased bleeding tendency. Pregnancy and childbirth in women with GT present significant challenges for both mother and child.
Rutten KHG, Schutgens REG, d'Oiron R, Fiore M, Castaman G, Gomez K, Mathias M, Lavin M, Elfvinge P, Kadir RA, van Galen KPM, Glanzmann Thrombasthenia and Women and Girls with Bleeding Disorders Working Groups of the EAHAD.   +11 more
europepmc   +2 more sources

Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience. [PDF]

Int J Lab Hematol
ABSTRACT Background Inherited platelet disorders (IPDs) are rare hematologic conditions encompassing a heterogeneous spectrum of quantitative and qualitative platelet defects, frequently associated with variable clinical phenotypes and comorbidities. Accurate diagnosis necessitates comprehensive genetic characterization, detailed clinical and bleeding ...
Ferrari S, Regazzo D, Bertomoro A, Cerbo A, Galbiati A, Cosi E, Simioni P.   +6 more
europepmc   +2 more sources

Optimizing Emergency Department Care for People With Bleeding Disorders: A Scoping Review of Barriers and Interventions for Improvement. [PDF]

Haemophilia
ABSTRACT Background Emergency department (ED) care is critical for managing acute bleeding events in people with bleeding disorders. Despite international guidelines recommending haemostatic treatment within 30–60 min, delays and deviations from best practices are common and associated with poorer outcomes.
Guo LY, Lorenzetti DL, Rydz N, Goodyear D, Hews-Girard J, Mok G, Khalife R, Uminski K.   +7 more
europepmc   +2 more sources

Glanzmann's thrombasthenia: updated

Platelets, 2002
Glanzmann's thrombasthenia is an autosomal recessive disorder, rare in a global context, but a relatively more common platelet function defect in communities where consanguineous marriages are more frequent. On clinical grounds alone, it cannot be distinguished from other congenital platelet function defects.
Sona, Nair, Kanjaksha, Ghosh, Bipin, Kulkarni, Shrimati, Shetty, Dipika, Mohanty   +4 more
openaire   +2 more sources

EXPRESSION OF CD41 (GPIIB) AND CD61 (GPIIIA) IN PATIENTS WITH GLANZMANN THROMBASTHENIA USING FLOW CYTOMETRY

The Iraqi Journal of Medical Sciences, 2017
Background: Many genetic mutations causing severe reduction or defect in GPIIb (CD41) and/or GPIIIa (CD61) receptors in Glanzmann Thrombasthenia (G.T.).
Hala O. Hassan, Subh S. Al-Mudalal, Yusra G. Alubaidy, Nidal K. Al-Rahal   +3 more
doaj   +6 more sources

Thrombasthénie de Glanzmann: à propos de 11 cas

The Pan African Medical Journal, 2015
INTRODUCTION: la thrombasthénie de Glanzmann est une pathologie hémorragique héréditaire rare due à une déficience ou un dysfonctionnement du complexe glycoprotéique IIb/IIIa de la membrane plaquettaire.
Jean-Louis Ntumba Mukendi, Souad Benkirane, Azlarab Masrar   +2 more
doaj   +1 more source

Management of Glanzmann's Thrombasthenia – Guidelines based on an expert panel consensus from gulf cooperation council countries

Journal of Applied Hematology, 2019
Glanzmann thrombasthenia is a rare disorder, due to quantitative and/or qualitative abnormalities of the platelet integrin αIIbβ3 and/or αIIbβ3. Although it is considered a rare disorder with a global incidence of 1/1,000,000 population, the case is ...
Ahmad Tarawah, Tarek Owaidah, Naima Al-Mulla, Muhammad Faisal Khanani, Jehan Elhazmi, Muneer Albagshi, Yaser Wali, Shikah AlMohareb, Abdulkareem Almomen   +8 more
doaj   +1 more source

Glanzmann's Thrombasthenia: An Overview

Clinical and Applied Thrombosis/Hemostasis, 2008
Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited bleeding disorder due to a defect in platelet function. The hallmark of this disease is severely reduced/absent platelet aggregation in response to multiple physiological agonists.
Meganathan, Kannan, Renu, Saxena
openaire   +2 more sources

Association of autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity

Clinical Case Reports, 2022
We report the case of a Filipino girl with autosomal‐recessive‐type distal renal tubular acidosis and Glanzmann thrombasthenia caused by homozygous variants in the genes SLC4A1 and ITGA2B within the long homozygous DNA region on chromosome 17q21.31. This
Keiko Aso, Takehiko Soutome, Mari Satoh, Takako Aoki, Hiromi Ogura, Toshiyuki Yamamoto, Hitoshi Kanno, Hiroyuki Takahashi   +7 more
doaj   +1 more source

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

Frontiers in Pediatrics, 2023
Glanzmann thrombasthenia (GT) is a rare inherited disease characterized by mucocutaneous bleeding due to the abnormalities in quantity or quality of platelet membrane GP IIb (CD41) or GP IIIa (CD61). GP IIb and GP IIIa are encoded by the ITGA2B and ITGB3
Zhengrong Wang, Zhengrong Wang, Yuqing Xu, Yuqing Xu, Yixi Sun, Yixi Sun, Shuang Wang, Shuang Wang, Minyue Dong, Minyue Dong   +9 more
doaj   +1 more source