Publications by authors named "E J van Beers"
Real-world performance of a clinical droplet digital polymerase chain reaction assay for non-invasive foetal blood group and platelet antigen genotyping of alloimmunized pregnant women with antibodies directed against RhD, RhE, Rhc, RhC, K1, HPA-1a or HPA-5b: A 1-year experience.
Camilla Calandrini Onno J H M Verhagen Ahmed Tissoudali Christa H E Homburg Jessica Vessies Erik H van Beers
Vox Sang
December 2024
Background And Objectives: To test the performance of a new droplet digital polymerase chain reaction (ddPCR) non-invasive foetal blood group and platelet antigen genotyping assay in the setting of a Dutch reference laboratory for foetal blood group and platelet antigen genotyping. Our population comprised 229 consecutive alloimmunized pregnant women who presented between April 2022 and March 2023 with 250 requests for non-invasive foetal RHD, RHE, RHc, RHC, K1, HPA-1a or HPA-5b blood group and platelet antigen genotyping.
Materials And Methods: Samples were genotyped for blood group and platelet antigen alleles along with methylated RASSF1a (mRASSF1a) and sex-determining region of Y (SRY) and DYS14 as positive foetal controls.
Article Synopsis
- Pyruvate kinase (PK) deficiency is a rare genetic anemia linked to the PKLR gene, leading to various health issues; however, its full impact is not fully understood.* -
- The Peak Registry study analyzed 241 patients with PK deficiency, noting significant treatments like splenectomy (48.3%) and chelation therapy (50.5%), as well as common complications like iron overload and neonatal issues.* -
- Adult patients also face serious complications, such as bone health problems and pulmonary hypertension, highlighting the need for better awareness and management strategies among healthcare providers.*
Article Synopsis
- The study investigates the use of osmotic gradient ektacytometry (Osmoscan) as a potential diagnostic tool to differentiate neuroacanthocytosis syndromes (NAS) from other neurodegenerative diseases.
- Significant differences in red blood cell properties were found in NAS patients compared to healthy controls and patients with other conditions, particularly in specific osmolality measurements.
- While some Osmoscan parameters showed promise, only two of them achieved 100% specificity for distinguishing NAS from other diseases, highlighting the need for further research with larger samples to solidify diagnostic criteria.
Article Synopsis
- Membranopathies include blood disorders caused by genetic changes in red blood cell membrane proteins, with hereditary spherocytosis and stomatocytosis being key examples, while CDA II shows similar symptoms.
- Mitapivat, a new drug that activates pyruvate kinase, has shown promise in raising hemoglobin levels and reducing blood cell breakdown in various diseases and is being tested in a trial with around 25 adults who have membranopathies or CDA II.
- The SATISFY trial aims to determine the safety and effectiveness of mitapivat over an 8-week period, with a focus on measuring its impact on hemoglobin, hemolysis, and patient-reported outcomes.
Article Synopsis
- Patients with von Willebrand disease (VWD) need von Willebrand factor (VWF) concentrates during surgery, and this study looked at how FVIII, a related clotting factor, behaves with repeated infusions of a 1:1 ratio VWF/FVIII concentrate.
- The study involved 125 patients undergoing various surgical procedures and measured FVIII and VWF levels at different times after CFC infusions, finding consistent recovery rates without significant accumulation of FVIII levels even after multiple doses in some patients.
- Results showed that administering the concentrate led to stable FVIII and VWF activity levels, highlighting the product's effectiveness, particularly that most major surgeries only required three CFC infusions for optimal results.