Results 51 to 60 of about 1,427 (117)

A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population

Human Mutation, Volume 2026, Issue 1, 2026.
Background Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages. Objectives This review is aimed at summarizing gene mutations and variants associated with IBDs in the Saudi population to enhance diagnosis and personalized care. Methods Published
Nancy S. Younis, Rahma M. Alkabsh, Shahad M. Nasser Alqahtani, Hajer Aljuail, Manar A. Alhashim, Shahad A. Bokhamsin, Layla J. Albaqshi, Salsabil F. Alqadhib, Jumanah A. Aldandan, Zahra A. Alshakhs, Maryam H. Altaweel, Maged E. Mohamed, Priya Gusain   +12 more
wiley   +1 more source

How Trustworthy is Light Transmittance Platelet Aggregometry With Low Platelet Count Samples? Insights From Test Replicates and Retrospective Analysis of Several Decades of Diagnostic Samples

International Journal of Laboratory Hematology, Volume 47, Issue 6, Page 1147-1157, December 2025.
ABSTRACT Introduction Light transmission platelet aggregometry (LTA) is useful to diagnose platelet function disorders (PFD). We evaluated the precision and reproducibility of LTA with low platelet count platelet‐rich plasma (LPRP). Methods LPRP maximal aggregation (MA) precision for informative agonists and LTA reproducibility were assessed using ...
Catherine P. M. Hayward, Rabab Al Dawood, Lindsay Wice, Karen A. Moffat   +3 more
wiley   +1 more source

Transcriptome profiling of megakaryocytes and platelets: Application to GP9‐ and IKZF5‐related thrombocytopenia

HemaSphere, Volume 9, Issue 9, September 2025.
Abstract Platelets are anucleate cells produced in the bone marrow and derived from large progenitor cells called megakaryocytes (MKs). Platelets receive RNA transcripts from their progenitorial MKs during thrombopoiesis. However, the correspondence between platelet and MK transcriptomes is poorly understood, particularly in the context of germline ...
Koenraad De Wispelaere, Fabienne Ver Donck, Kato Ramaekers, Chantal Thys, Koji Eto, Veerle Labarque, Ernest Turro, Kathleen Freson   +7 more
wiley   +1 more source

A Case Report on the Surgical Extraction of a Third Molar in a Patient with Bernard–Soulier Syndrome, an Uncommon Disease

Indian Journal of Dental Sciences
We present a case of a patient with Bernard–Soulier syndrome (BSS) who had his impacted third mandibular molar surgically extracted. An uncommon congenital bleeding condition called BSS is inherited in an autosomal recessive fashion.
Ashish Kamboj, Chandan Mishra, Paras Angrish, S.S Chopra, Sunil Kumar Singh   +4 more
doaj   +1 more source

Current Knowledge on Inherited Platelet Function Disorders

Clinical Pediatric Hematology-Oncology, 2020
Inherited platelet function disorders (IPFDs) are rare and underdiagnosed in individuals with clinically significant bleeding diathesis. IPFDs are classified according to the causative molecular defects involved in the process of primary hemostasis of ...
Nani Jung, Ye Jee Shim
doaj   +1 more source

Bernard-Soulier syndrome: a flow cytometric analysis of membrane GP-Ib expression

The Turkish Journal of Pediatrics, 1996
A case of Bernard-Soulier syndrome in a five-year-old female is presented. The diagnosis was confirmed by flow cytometric analysis of glycoprotein Ib (CD 42b) in addition to the patient's classic laboratory findings such as prolonged bleeding time,
M A Yeşilipek, I Karadoğan, L Undar
doaj  

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

Haematologica, 2011
Background Bernard-Soulier syndrome is a severe bleeding disease due to a defect of GPIb/IX/V, a platelet complex that binds the von Willebrand factor.
Anna Savoia, Annalisa Pastore, Daniela De Rocco, Elisa Civaschi, Mariateresa Di Stazio, Roberta Bottega, Federica Melazzini, Valeria Bozzi, Alessandro Pecci, Silvana Magrin, Carlo L. Balduini, Patrizia Noris   +11 more
doaj   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients

Haematologica, 2004
BACKGROUND AND OBJECTIVES: The Italian Gruppo di Studio delle Piastrine recently developed a diagnostic algorithm to assist clinicians in the diagnosis of inherited thrombocytopenias.
P Noris, A Pecci, F Di Bari, MT Di Stazio, M Di Pumpo, IF Ceresa, N Arezzi, C Ambaglio, A Savoia, CL Balduini   +9 more
doaj  

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source