Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Allogeneic Stem Cell Transplant in Hematological Disorders: A Decade of Experience.
Int J Hematol Oncol Stem Cell Res
October 2024
Medical Student, Medical College, Aga Khan University Karachi, Pakistan.
: Allogeneic hematopoietic cell transplantation (allo-HCT) is a complex procedure with the potential to provide curative treatment for various hematological disorders. This study aims to evaluate the outcomes of allo-HCT in hematological diseases and identify significant complications in a single-center setting. : We conducted a retrospective analysis of 180 patients with hematological diseases who underwent allo-HCT between January 2011 and December 2021.
View Article and Find Full Text PDFArticle Synopsis
- Thalassaemia stems from over 250 mutations in the beta globin gene, impacting hematopoietic stem cell differentiation and causing ineffective red blood cell production.
- The traditional focus on managing symptoms with transfusions and iron chelation therapy has hindered progress toward developing cell-based treatments, despite advancements in understanding the disease since the identification of the beta039 mutation in 1979.
- Recent progress in treating hematopoietic stem cell disorders emphasizes a 'target cell strategy,' suggesting a shift toward innovative treatments for thalassaemia that identify suitable candidates through risk stratification, highlighting its nature as a congenital HSC disorder.
Novel Insights into Hb Shaare Zedek Associated with β-Thalassemia: Molecular Characteristics, Genetic Origin and Diagnostic Approaches.
Int J Mol Sci
August 2024
Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao 56000, Thailand.
Hemoglobin Shaare Zedek (Hb SZ) is a rare structural α-Hb variant. Characterizing its genotype-phenotype relationship and genetic origin enhances diagnostic and clinical management insights. We studied a proband and six family members using high-performance liquid chromatography (HPLC), capillary electrophoresis (CE), PCR, and sequencing to analyze α- and β-globin genes and α-globin haplotypes.
View Article and Find Full Text PDFDesigning a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol.
BMJ Open
July 2024
Institute of Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.
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.
Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
BMC Pregnancy Childbirth
July 2024
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research, Hainan Provincial Clinical Research Center for Thalassemia, Department of Reproductive Medicine, Key Laboratory of Reproductive Health Diseases Research and Translation, Hainan Medical University, Ministry of Education, the First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, 570100, China.
Background: Ornithine carbamoyltransferase deficiency (OTCD) is a kind of X-linked metabolic disease caused by a deficiency in ornithine transcarbamylase leading to urea cycle disorders. The main reason is that the OTC gene variants lead to the loss or decrease of OTC enzyme function, which hinders the ammonia conversion to urea, resulting in hyperammonemia and severe neurological dysfunction. Here, we studied one Chinese family of three generations who consecutively gave birth to two babies with OTCD.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!