Thalassemia major is the most common monogenetic disorder worldwide, manifested as chronic hemolytic anemia. This condition leads to the need for chronic blood transfusion to be monitored for an iron overload that may be stored in several tissues and organs, including cardiomyocytes, that might cause a broad spectrum of cardiac iron toxicities such as heart failure conduction delays, myocarditis, and arrhythmias. Non-invasive imaging modalities have their benefits and limitations. Each modality complements and generates a comprehensive diagnostic and monitoring of cardiac siderosis in thalassemia major patients.
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http://dx.doi.org/10.31083/j.rcm2308267 | DOI Listing |
BMC Med Imaging
January 2025
Department of Radiology, Shenzhen Children's Hospital, Shantou University Medical College, 7019 Yitian Road, Futian District, Shenzhen, 518038, China.
Background: Beta thalassemia major (β-TM) is a severe genetic anemia with considerable phenotypic heterogeneity. This study investigated whether genotype correlates with distinct myocardial iron overload patterns, assessed by cardiovascular magnetic resonance (CMR) T2* values.
Methods: CMR data for cardiac iron deposition evaluation, which recruited pediatric participants between January 2021 and December 2024, were analyzed with CVI42.
Adv Biotechnol (Singap)
January 2025
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou, 510275, Guangdong, China.
Β-thalassemia is one of the global health burdens. The CD41-42 (-TCTT) mutation at HBB is the most prevalent pathogenic mutation of β-thalassemia in both China and Southeast Asia. Previous studies focused on repairing the HBB CD41-42 (-TCTT) mutation in β-thalassemia patient-specific induced pluripotent stem cells, which were subsequently differentiated into hematopoietic stem and progenitor cells (HSPCs) for transplantation.
View Article and Find Full Text PDFFront Med (Lausanne)
January 2025
Department of Pharmacy, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Objective: Our aim is to review the safety and efficacy of hydroxyurea (HU) on -thalassemia patients.
Methods: Studies that evaluated the safety and efficacy of HU on β-thalassemia patients were searched in Pub-Med, Cochrane Databases, Web of Science, China-Biology-Medicine, CNKI, Embase, VIP, and WanFang data. The proportions of response rate (RR) (50% fall in transfusion need in transfusion-dependent -thalassemia patients, or 1 g/dL elevate in hemoglobin (Hb) levels in transfusion-independent -thalassemia patients) and good RR (transfusion-free in transfusion-dependent -thalassemia patients or 2 g/dL elevate in Hb levels in transfusion-independent β-thalassemia patients) were utilized to evaluate the effect size (ES).
Hereditas
January 2025
Key Laboratory of Reproductive Health Diseases Research and Translation of Ministry of Education & Key Laboratory of Human Reproductive Medicine and Genetic Research of Hainan Provincie & Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, Hainan, 571101, China.
Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).
View Article and Find Full Text PDFBraz J Biol
January 2025
Operational Research Center in Healthcare, Near East University, Mersin, Turkey.
Hepatitis C virus (HCV) presents a significant global health concern, affecting 3.3% of the world's population. The primary mode of HCV transmission is through blood and blood products.
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