One of the most important causes of mortality in thalassemic patients is infectious disease. Thalassemic patients develop severe invasive infection caused by microorganisms that are rare in healthy individuals. We describe the case of a 13-year-old splenectomized boy who presented with septic shock and who died 36 h after admission, despite broad-spectrum antibiotics and aggressive supportive care. Serratia marcescens was isolated from cultures of blood and tracheal aspirate. It is known that rare microorganisms will cause severe community-acquired infection in splenectomized patients with thalassemia major.
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http://dx.doi.org/10.1111/ped.12492 | DOI Listing |
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.
View Article and Find Full Text PDFHematology
December 2025
Division of Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, and King Chulalongkorn Memorial Hospital, Thai Red Cross, Bangkok, Thailand.
Background: Hemoglobin (Hb) Hekinan is a prevalent α-globin variant frequently missed in thalassemia screening centers using high-performance liquid chromatography (HPLC) or capillary electrophoresis. This study aims to investigate the hematological and molecular characteristics of Hb Hekinan in a large cohort.
Methods: Hb variants were identified using isoelectric focusing (IEF) and HPLC.
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