Results 41 to 50 of about 1,325 (125)

Glanzmann thrombasthenia: genetic basis and clinical correlates

Haematologica, 2020
Glanzmann thrombasthenia (GT) is an autosomal recessive disorder of platelet aggregation caused by quantitative or qualitative defects in integrins αIIb and β3. These integrins are encoded by the ITGA2B and ITGB3 genes and form platelet glycoprotein (GP)
Juliana Perez Botero, Kristy Lee, Brian R Branchford, Paul F Bray, Kathleen Freson, Michele P. Lambert, Minjie Luo, Shruthi Mohan, Justyne E. Ross, Wolfgang Bergmeier, Jorge Di Paola   +10 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Correlation of Platelet Receptor Expression in Glanzmann Thrombasthenia with Clinical Presentation and Haematological Parameters

Pakistan Armed Forces Medical Journal
Objective: To correlate platelet receptor expression with clinico-haematological parameters in patients of Glanzmann Thrombasthenia. Study Design: Cross-sectional study.
Ahmad Cheema, Manzar Bozdar, Hamid Saeed Malik, Muhammad Hussain, Rafia Mahmood, Aysha Khan, Ayesha Khurshid, Syeda Samia Shafaat   +7 more
doaj   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

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

National Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population

Haemophilia, Volume 32, Issue 3, Page 646-657, May/June 2026.
ABSTRACT Introduction The National Bleeding Disorder Foundation (NBDF) Medical and Scientific Advisory Council (MASAC) was formed in 1954 and issues recommendations and advisories pertinent to the bleeding disorders community. MASAC is comprised of > 25 rotating members from different medical disciplines and lived experience experts.
Glaivy Batsuli, Magdalena D. Lewandowska, Ming Y. Lim, Kelly Tickle, Maureen K. Baldwin, Rose Bender, Jennifer Davila, Brendan Hayes, Amanda Jacobson‐Kelly, Peter Kouides, Michele P. Lambert, Shilpa Nataraj, Michelle Sholzberg, Roona Sinha, Hanny Al‐Samkari, Amy L. Dunn   +15 more
wiley   +1 more source

Effects of Spectral Interfering Substances on Light Transmission Platelet Aggregation Using Infrared Based Aggregometer

Journal of Clinical Laboratory Analysis, Volume 40, Issue 2, January 2026.
This study aims to investigate the nature and extent of hemolyzed, icteric, or lipemic (HIL) interference on platelet aggregation using the TA‐8 V aggregometer (Diagnostica Stago, Asnières sur Seine) equipped with a near‐infrared light source outside the typical absorbance range of HIL.
Manal Ibrahim‐Kosta, Gaïa Zirka, Karine Carriere, Philippe Ohlmann, Marie‐Christine Alessi   +4 more
wiley   +1 more source

ITGA2B/ITGB3‐Related Macrothrombocytopenia Associated With Gain‐of‐Function Mutations in ITGA2B or ITGB3 Genes

Journal of Cellular and Molecular Medicine, Volume 30, Issue 1, January 2026.
ABSTRACT Glanzmann thrombasthenia (GT) is an inherited hemorrhagic disorder characterised by impaired platelet functions, manifested clinically as spontaneous bleeding. It is usually inherited in an autosomal recessive manner. Platelet dysfunction in patients with GT is caused by quantitative and/or qualitative deficiencies in αIIbβ3, which result from
Jiao Wu, Han Yan, Zijian Li, Yilin Zhu, Ruonan Shao, Honglei Xin, Tongyu Jia, Mengyu Ge, Lu Zhang, Suyu Jiang, Jianhua Mao, Jiansong Huang, Chao Fang, Xiaodong Xi, Xiaofeng Shi   +14 more
wiley   +1 more source

Mon‐Pu (Glochidion perakense Hook.f.) as a Promising Novel Natural Source of Antithrombotic and Antioxidant Benefits

Advances in Pharmacological and Pharmaceutical Sciences, Volume 2026, Issue 1, 2026.
Current evidence suggests that regular consumption of food‐functioned fruits and vegetables could reduce the risk of thrombosis. While some indigenous vegetables from Southern Thailand have been reported to exhibit anticoagulant and antiplatelet activities, their fibrinolytic and thrombolytic properties remain unexplored.
Surachai Techaoei, Muhammad Junaid, Warachate Khobjai, Suriyan Sukati, Anjali Chauhan   +4 more
wiley   +1 more source

Identification of Key Genes and Pathways Associated With Gender Differences in Pulmonary Arterial Hypertension Based on Bioinformatic Approaches

BioMed Research International, Volume 2026, Issue 1, 2026.
Pulmonary arterial hypertension (PAH) is a complex disease with multiple contributing factors. Epidemiological data showed that women are more susceptible to PAH, but they tend to have better right ventricular (RV) function and prognosis compared to men. The mechanisms behind these gender differences are not well understood.
Mohammad Panahi, Reyhaneh Kalhor, Mohammad-Hossein Mokhtarian, Fatemeh Javaheri Tehrani, Zinat Shams, Hourieh Kalhor, Hannah Wesley   +6 more
wiley   +1 more source