Review
Medical Laboratory Technology
Alex Bourguignon, Subia Tasneem, Catherine P. Hayward
Summary: Inherited platelet disorders are important conditions that manifest with bleeding. The underlying pathologies are diverse and their evaluation requires specialized diagnostic tests. Although the molecular cause of many common platelet disorders is still unknown, significant progress has been made in improving diagnostic evaluation in the past few decades.
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Veronica Palma-Barqueros, Nuria Revilla, Ana Sanchez, Ana Zamora Canovas, Agustin Rodriguez-Alen, Ana Marin-Quilez, Jose Ramon Gonzalez-Porras, Vicente Vicente, Maria Luisa Lozano, Jose Maria Bastida, Jose Rivera
Summary: Platelets are essential for hemostasis, and inherited platelet disorders (IPDs) are rare genetic diseases with variable clinical manifestations, where early diagnosis and close patient follow-up are crucial. Genetic diagnosis is important for proper clinical management, and although advances have been made in diagnosis, there are still ethical concerns regarding genetic investigations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
I. C. A. Munnix, R. Van Oerle, P. Verhezen, P. Kuijper, C. M. Hackeng, H. I. J. Hopman-Kerkhoff, F. Hudig, D. Van De Kerkhof, A. Leyte, M. P. M. De Maat, R. F. M. Oude Elferink, J. Ruinennans-Koerts, M. Schoorl, J. Slomp, H. Soons, A. Stroobants, E. Van Wijk, Y. M. C. Henskens
Summary: Light transmission aggregometry (LTA) is considered the gold standard for evaluating platelet function, but there is high variation in protocols and results. Establishing a national LTA protocol based on SSC guidelines did not significantly reduce variability in healthy subjects for all agonist concentrations.
Article
Hematology
Paolo Gresele, Emanuela Falcinelli, Loredana Bury, Alessandro Pecci, Marie-Christine Alessi, Munira Borhany, Paula G. Heller, Cristina Santoro, Ana Rosa Cid, Sara Orsini, Pierre Fontana, Erica De Candia, Gianmarco Podda, Meganathan Kannan, Kerstin Jurk, Giancarlo Castaman, Celine Falaise, Giuseppe Guglielmini, Patrizia Noris
Summary: The ISTH Bleeding Assessment Tool has been validated for clinical screening of suspected VWD and for bleeding prediction. This study assessed whether the ISTH-BAT bleeding score can predict subsequent bleeding events requiring treatment in patients with inherited platelet disorders. Patients with high baseline bleeding scores were more likely to suffer from bleeding events requiring treatment, regardless of their specific diagnosis.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)
Article
Cell Biology
Anna Schultz-Lebahn, Mette Tiedemann Skipper, Anne-Mette Hvas, Ole Halfdan Larsen
Summary: The study expanded the model to include normal platelet counts and found a positive linear correlation between platelet counts and platelet aggregation across normal and reduced platelet counts. This new expanded model serves as an optimized tool for evaluating platelet aggregation at both normal and reduced platelet counts.
Article
Hematology
George A. Mason, David J. Rabbolini
Summary: Platelet dysfunction may increase bleeding risk, while increased platelet reactivity on antiplatelet agents may increase thrombosis risk. Platelet function testing can help reduce these risks and guide treatment strategies.
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2021)
Review
Hematology
Valder R. Arruda, David Lillicrap, Roland W. Herzog
Summary: The article introduces the possible causes of coagulation disorders and main strategies to address the immune responses, including immune tolerance induction, immune suppression therapies, and the development of drugs that bypass antibodies. In addition, the article discusses novel immunotherapy approaches still in the preclinical phase, such as cellular immunotherapies, gene therapy, and oral antigen administration.
Review
Hematology
Valder R. Arruda, David Lillicrap, Roland W. Herzog
Summary: The article discusses the risks of bleeding caused by disorders of coagulation resulting from autoantibody formation or mutations in genes encoding coagulation factors. It also outlines strategies to address immune responses against important clotting factor protein drugs and the selection of immune or alternative therapies for inherited and autoimmune bleeding disorders.
Review
Hematology
Jennifer Gebetsberger, Florian Prueller
Summary: This article discusses the advantages and disadvantages of light transmission aggregometry as the gold standard test for diagnosing inherited platelet disorders, and highlights the necessity of functional assays in the era of molecular genetic testing.
Article
Medicine, General & Internal
Alexander Kille, Kilian Franke, Noe Corpataux, Julia Hromek, Christian M. Valina, Franz-Josef Neumann, Dietmar Trenk, Thomas G. Nuehrenberg, Willibald Hochholzer
Summary: This study aimed to evaluate whether on-treatment platelet reactivity is a predictor for bleeding events after transcatheter aortic valve implantation (TAVI). The study found that low/normal/high on-clopidogrel platelet reactivity and use of oral anticoagulation were the strongest predictors for peri-interventional bleeding events.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Jan Louzil, Jana Stikarova, Dana Provaznikova, Ingrid Hrachovinova, Tereza Fenclova, Jan Musil, Martin Radek, Jirina Kaufmanova, Vera Geierova, Eliska Ceznerova, Peter Salaj, Roman Kotlin
Summary: A single-center study on patients with inherited disorders of primary hemostasis found that most patients presented with bleeding symptoms but had no definitive diagnosis. By implementing advanced diagnostic methods, such as next-generation sequencing (NGS), the diagnostic rate has been improved.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Hematology
Tatiana Mencarini, Yana Roka-Moiia, Silvia Bozzi, Alberto Redaelli, Marvin J. Slepian
Summary: This study aimed to evaluate the feasibility of MICELI in platelet aggregation testing in whole blood and found that it had similar effects compared to LTA. Platelet aggregation in whole blood as recorded by EIA was found to be a better model system for evaluating platelet reactivity.
THROMBOSIS RESEARCH
(2021)
Article
Hematology
Floor C. J. I. Heubel-Moenen, Sanne L. N. Brouns, Linda Herfs, Lara S. Boerenkamp, Natalie J. Jooss, Rick J. H. Wetzels, Paul W. M. Verhezen, Patric Machiels, Karyn Megy, Kate Downes, Johan W. M. Heemskerk, Erik A. M. Beckers, Yvonne M. C. Henskens
Summary: This study aimed to establish a shear-dependent platelet function defect in patients with prolonged platelet function analyser (PFA) closure time without evidence of von Willebrand disease or impaired platelet aggregation. Microfluidic analysis showed significantly lower platelet adhesion and thrombus formation parameters in these patients compared to healthy volunteers. Principal components analysis indicated von Willebrand factor as the primary explanation for PFA prolongation, whereas conventional platelet aggregation explained the reduced thrombus parameters under shear. This suggests a shear-dependent platelet function defect, not detected by static conventional haemostatic tests.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Medicine, General & Internal
Barbara Dragan, Barbara Adamik, Malgorzata Burzynska, Szymon Lukasz Dragan, Waldemar Gozdzik
Summary: This study evaluated changes in platelet aggregation in ICU patients with intracranial bleeding, finding that platelet dysfunction is an important predictor of survival. Platelet response was suppressed in non-survivors, but improved in survivors. Therefore, measuring platelet function in ICU patients can be helpful in predicting outcomes.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Christiane Franz, Lara Bender, Christoph Dorn, Thorsten Sichtermann, Jan Minkenberg, Maximilian Franko, Martin Wiesmann, Andrea Stockero, Omid Nikoubashman, Rebecca May, Hani Ridwan
Summary: Knowledge of platelet function in pigs and the effectiveness of antiplatelet therapy is important for the transferability of animal studies to humans. This study characterized the baseline platelet function of Aachen minipigs, compared it with Gottingen minipigs, and evaluated platelet inhibition after intravenous administration of acetylsalicylic acid (ASA). The results showed differences in baseline platelet function between the two pig breeds and immediate platelet inhibition after ASA administration in Aachen minipigs.
Editorial Material
Hematology
Catherine P. M. Hayward
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2020)
Article
Hematology
Catherine P. M. Hayward, Tracy George, Elizabeth M. Van Cott, Kristi J. Smock
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2020)
Article
Hematology
Justin G. Brunet, Tanmya Sharma, Subia Tasneem, Minggao Liang, Michael D. Wilson, Georges E. Rivard, Catherine P. M. Hayward
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2020)
Article
Oncology
Sapna Oberoi, Angie Dawson, Daniel Marko, Muhamad Almiski, Rick Higgins, Sara J. Israels
Summary: Combined rearrangements of MYC and BCL2 are rare in precursor B-ALL, leading to an aggressive disease course and inadequate response to standard treatments.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2021)
Article
Hematology
Elisabetta Castoldi, Nathalie Hezard, Guillaume Mourey, Kanin Wichapong, Marjorie Poggi, Manal Ibrahim-Kosta, M. Christella L. G. D. Thomassen, Alexandra Fournel, Catherine P. M. Hayward, Marie-Christine Alessi, Tilman M. Hackeng, Jan Rosing, Pierre-Emmanuel Morange
Summary: The study investigated a patient with FV deficiency who paradoxically presented with recurrent venous thrombosis instead of bleeding. The patient had a novel missense mutation causing a closed conformation of the FV C2 domain, leading to a hypercoagulable state with markedly decreased FV levels and phospholipid-binding defect.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)
Article
Hematology
Rachel Goren, Eleanor Pullenayegum, Victor S. Blanchette, Saunya Dover, Manuel Carcao, Sara J. Israels, Anthony Chan, Georges E. Rivard, MacGregor Steele, Stephanie Cloutier, Robert J. Klaassen, Roona Sinha, Victoria E. Price, Nicole Laferriere, Elizabeth Paradis, John K. Wu, Brian M. Feldman
Summary: This study identified three distinct classes of joint health trajectories in young boys with severe haemophilia A. Age at first index joint bleed was the only factor predicting rapidly increasing joint scores. The rapidly increasing joint score class group moved through dose escalation significantly faster than the other two groups.
Article
Hematology
Tanmya Sharma, Justin G. Brunet, Subia Tasneem, Stephanie A. Smith, James H. Morrissey, Catherine P. M. Hayward
Summary: The study demonstrates impaired thrombin generation in commonly encountered platelet function disorders, with both platelet-rich plasma and platelet-poor plasma samples showing abnormalities in thrombin generation. Interesting associations between thrombin generation endpoints and symptoms were found in the study.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Editorial Material
Hematology
Catherine P. M. Hayward, Kristi J. Smock
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2021)
Review
Medical Laboratory Technology
Alex Bourguignon, Subia Tasneem, Catherine P. Hayward
Summary: Inherited platelet disorders are important conditions that manifest with bleeding. The underlying pathologies are diverse and their evaluation requires specialized diagnostic tests. Although the molecular cause of many common platelet disorders is still unknown, significant progress has been made in improving diagnostic evaluation in the past few decades.
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
(2022)
Review
Hematology
Alex Bourguignon, Subia Tasneem, Catherine P. M. Hayward
Summary: Platelet procoagulant mechanisms play a complex and important role in achieving hemostasis. These mechanisms include the release of procoagulant molecules from platelet storage granules, and the expression of procoagulant phospholipids on the outer platelet membrane. Recent advances have been made in assessing platelet procoagulant function in health and disease.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2022)
Biographical-Item
Hematology
Rajiv K. Pruthi, Kristi Smock, Catherine P. M. Hayward
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2023)
Review
Hematology
Natalie Mathews, Subia Tasneem, Catherine P. M. Hayward
Summary: This review provides current information on rare inherited bleeding disorders that are difficult to diagnose. Some rare bleeding disorders cause an inherited deficiency of multiple coagulation factors, while others affect a variety of procoagulant and anticoagulant proteins and platelets. Laboratories and clinicians should consider rare inherited disorders, and difficult to diagnose conditions, in their strategy for diagnosing bleeding disorders.
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2023)
Article
Hematology
Diane Nugent, Suchitra S. Acharya, Kimberly J. Baumann, Camille Bedrosian, Rebecca Bialas, Kai Brown, Deya Corzo, Amar Haidar, Catherine P. M. Hayward, Peter Marks, Marzia Menegatti, Margaret E. Miller, Kate Nammacher, Roberta Palla, Skye Peltier, Rajiv K. Pruthi, Michael Recht, Benny Sorensen, Michael Tarantino, Alisa S. Wolberg, Amy D. Shapiro
Summary: Living with an ultra-rare inherited bleeding disorder presents challenges for patients. Researchers propose establishing a national network of specialists, improving understanding of individual disorders, and facilitating research on new treatments.
EXPERT REVIEW OF HEMATOLOGY
(2023)
Article
Hematology
Jennifer Stimec, Saunya Dover, Eleanor Pullenayegum, Victor S. Blanchette, Andrea S. Doria, Brian M. Feldman, Manuel Carcao, Georges E. Rivard, Sara J. Israels, Anthony K. Chan, MacGregor Steele, Stephanie Cloutier, Robert J. Klaassen, Victoria E. Price, Roona Sinha, Nicole Laferriere, Elizabeth Paradis, John K. M. Wu, Paul Babyn
Summary: This study found that 39% of boys with severe hemophilia A receiving frequency/dose-escalated primary prophylaxis showed osteochondral changes in at least one joint after a median of 9.6 years. Interval joint bleeding was associated with a higher risk of later MRI changes, and early soft-tissue changes were linked to subsequent osteochondral changes.
RESEARCH AND PRACTICE IN THROMBOSIS AND HAEMOSTASIS
(2021)
Meeting Abstract
Oncology
Pauline Tibout, Camille Jimenez Cortes, Thomas Pincez, Omar Ledjiar, Lesleigh Abbott, Uma Athale, Lynette Bowes, Josee Brossard, Sylvia Cheng, David Eisenstat, David Mitchell, Victor Lewis, Sara Israels, Marie-Claude Pelland-Marcotte, Meera Rayar, Ketan Kulkarni, Tony Truong, Lilian Sung, Sonia Cellot, Henrique Bittencourt, Thai Tran
PEDIATRIC BLOOD & CANCER
(2021)