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A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.
Genes (Basel)
December 2024
Department of Paediatrics Hemato-Oncology and Paediatric Gastroenterology, Pomeranian Medical University, 70-204 Szczecin, Poland.
Background: Hexokinase (HK) deficiency is a rare autosomal recessively inherited disease manifested by chronic nonspherocytic hemolytic anemia. Most patients present with a mild to severe course of the disease (fetal hydrocephalus, neonatal hyperbilirubinemia, severe anemia). We reviewed 37 cases of patients with hexokinase deficiency described so far, focusing on the severity of the disease, clinical presentation, treatment applied, and genetic test results.
View Article and Find Full Text PDF10-Year Risk of Gallstones in Congenital Red Blood Cell Disorder Patients: A Nationwide Cohort Study.
Am J Hematol
February 2025
Department of Hematology, Odense University Hospital, Odense, Denmark.
Chronic hemolysis potentially elevates the risk of gallstones in several types of congenital red blood cell (RBC) disorders. However, the magnitude of the risk is unknown. We investigate the risk of gallstone disease in congenital RBC disorder patients, compared with general population comparators.
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.
Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.
Adv Exp Med Biol
July 2024
Department of Cell Biology, Erasmus MC, Rotterdam, The Netherlands.
Erythroid Krüppel-like factor (KLF1), first discovered in 1992, is an erythroid-restricted transcription factor (TF) that is essential for terminal differentiation of erythroid progenitors. At face value, KLF1 is a rather inconspicuous member of the 26-strong SP/KLF TF family. However, 30 years of research have revealed that KLF1 is a jack of all trades in the molecular control of erythropoiesis.
View Article and Find Full Text PDFGenetic Analysis of Two Novel GPI Variants Disrupting H Bonds and Localization Characteristics of 55 Gene Variants Associated with Glucose-6-phosphate Isomerase Deficiency.
Curr Med Sci
April 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Article Synopsis
- GPI deficiency is a rare inherited condition that leads to nonspherocytic hemolytic anemia and is caused by variants in the GPI gene, complicating diagnosis due to diverse symptoms.
- In a Chinese family, researchers identified two new variants in the GPI gene through advanced sequencing techniques, which affect the protein's structure.
- The study highlights the importance of early genetic testing in families with congenital anemia to enhance diagnosis, healthcare, and genetic counseling for affected individuals.
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