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beta-thalassemia (beta-thal) is a worldwide hereditary red cell disorder characterized by severe chronic anemia. Recently, the pyruvate kinase (PK) activator mitapivat has been shown to improve anemia and ineffective erythropoiesis in a mouse model of beta-thal and in non-transfusion dependent thalassemic patients. Here, we showed that in vitro CD34+ derived erythroblasts from beta-thal (codb039) patients are characterized by persistent expression of two PK isoforms, PKR and PKM2, when compared to healthy cells.
View Article and Find Full Text PDFDNA damage in children with β-thalassemia minor: genotoxicity assessment by comet assay.
Turk J Pediatr
February 2025
Section of Hematology, Department of Pediatrics, Faculty of Medicine, Gazi University, Ankara, Türkiye.
Background: In transfusion-dependent forms of β-thalassemia, chronic anemia and iron overload lead to the development of oxidative stress-related DNA damage. In β-thalassemia minor (β-Tm), oxidative stress resulting from an unbalanced globin chain ratio has been documented, even in the absence of anemia and its complications. However, the status of oxidative stress-related DNA damage has not yet been elucidated.
View Article and Find Full Text PDFPrevalence of Hemoglobinopathies Among the Kurdish Population in Zakho City, Kurdistan Region, Iraq.
Cureus
February 2025
Hematopathology, College of Medicine, University of Zakho, Zakho, IRQ.
Background: Hemoglobinopathies are the most common inherited disorders in the Mediterranean region, including Iraq, with different frequencies and molecular features. They represent an important health problem in Iraq. Several studies have addressed the prevalence of hemoglobinopathy in Iraq, but no specific research has addressed its prevalence in Zakho city, Kurdistan Region, Iraq.
View Article and Find Full Text PDFSelecting patients with sickle cell disease for gene addition or gene editing-based therapeutic approaches: Report on behalf of a joint EHA Specialized Working Group and EBMT Hemoglobinopathies Working Party consensus conference.
Hemasphere
March 2025
Department of General Pediatrics and Pediatric Infectious Diseases, Sickle Cell Center, Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Université Paris Cité Paris France.
Sickle cell disease (SCD) remains associated with reduced life expectancy and poor quality of life despite improvements observed in the last decades mostly related to comprehensive care, use of hydroxycarbamide, screening to identify patients at risk of strokes, and implementation of safe transfusion protocols. The course of the disease is highly variable, making it difficult to predict severity and response to therapy. Allogeneic hematopoietic stem cell transplantation potentially provides a cure with a relatively low rate of complications, but few patients have an HLA-identical sibling.
View Article and Find Full Text PDFCarrier Frequency of Autosomal Recessive Diseases in a Population Attending a Human Fertility Institute in Colombia.
JBRA Assist Reprod
March 2025
InSer Institute of Human Fertility, Bogotá, Colombia.
Objective: To determine the carrier frequency of X-linked and autosomal recessive diseases in patients attending a human fertility institute in Colombia.
Methods: This retrospective observational study included patients and gamete donors attending a Human Fertility Institute in Colombia between January 2017 and June 2023. Sociodemographic data and results of Next Generation Sequencing laboratory panels for screening of recessive disease-causing mutations were collected and analyzed.
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