17,649 results match your criteria: "Thalassemia Beta"

Background: Allo-HSCT is a curative therapy for patients with transfusion-dependent thalassemia (TDT). The high incidence of transplant-related complications is becoming an obstacle to safe and effective unrelated donor (URD) transplantation.

Methods: In this retrospective study, we reported the survival outcomes and complications of transplantation in thalassemia patients using a novel regimen consisting of pre-transplantation immunosuppression (PTIS) and modified myeloablative conditioning based on intravenous busulfan, cyclophosphamide, fludarabine, and rabbit anti-human thymocyte immunoglobulin.

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Bacterial infections leading to bacteremia and septicemic shock constitute an emerging public health concern globally, especially in areas where sanitation is poor and safe drinking water is scarce. Enteric pathogens such as Vibrio cholerae are responsible for many deaths caused by contaminated food and water in these areas. While cholera is the prominent clinical threat posed by V.

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Hb Monza: A novel extensive HBB duplication with preserved α-β subunit interaction and unstable hemoglobin phenotype.

Med

December 2024

Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy; Hematology Department, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.

Background: Unstable hemoglobins are caused by single amino acid substitutions in the HBB gene, often affecting key histidine residues, leading to protein destabilization and hemolytic crises. In contrast, long HBB variants, exceeding 20 bp, are rare and associated with a β-thalassemia phenotype due to disrupted α-β chain interactions. We describe a family wherein four of six members carry a novel 23-amino-acid in-frame duplication of HBB (c.

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Application of third-generation sequencing technology in the genetic testing of thalassemia.

Mol Cytogenet

December 2024

Prenatal Diagnostic Center, Medical Genetics Center, Department of Obstetrics and Gynaecology, The Seventh Affiliated Hospital of Sun Yat-sen University, 628 Zhenyuan Rd., Guangming Dist., Shenzhen, China.

Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern China.

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Accumulation of free α-globin is a critical factor in the pathogenesis of β-thalassemia. Autophagy plays a crucial role in clearing toxic free α-globin, thereby reducing disease severity. However, the impact of natural mutations in autophagy-related genes (ATGs) on the phenotypic variability of β-thalassemia remains unclear.

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Pediatric case of hemoglobin I-high Wycombe variant.

Clin Chim Acta

December 2024

Department of Pathology & Immunology, Baylor College of Medicine, USA; Department of Pathology, Texas Children's Hospital, Houston, TX, USA. Electronic address:

Over 1400 variants of hemoglobin (Hb) have been identified and characterized with phenotypes ranging from clinically silent to severe clinical manifestations in carriers. Different analytical methods have been established to detect Hb variants. Here, we report the first pediatric case of hemoglobin I-High Wycombe [β59(E3) Lys → Glu] variant found in an infant of Mexican-American descent.

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Background: Beta-thalassemias (BTs) are characterized by deficient or absent synthesis of the beta-globin subunit, leading to anemia. Patient characteristics and treatment patterns in these patients may vary.

Objective: This retrospective study evaluated demographics, clinical characteristics, and treatment patterns in patients with transfusion-dependent BT (TDT) and non-transfusion-dependent BT (NTDT).

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Patients with transfusion-dependent β-thalassemia (TDT) with iron overload have been linked to hypercoagulability and increased platelet (PLT) activation that causes thrombosis. Green tea extract (GTE) rich in epigallocatechin-3-gallate (EGCG) exerts iron-chelating and antithrombotic properties. The study aimed to assess the effects of GTE treatment on plasma coagulation state and PLT function in vitro and in patients with TDT.

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Objective: Our study aimed to investigate the ototoxicity associated with the iron chelator deferasirox in patients with β-thalassemia major, who were receiving regular transfusion therapy, along with evaluating the data on audiological tests using appropriate statistical tests.

Methods: A cross-sectional observational study was conducted on 100 transfusion-dependent β-thalassemia major patients on oral iron chelating agent-deferasirox. Pure tone audiometry (PTA) and distortion product otoacoustic emissions (DPOAE) was carried out in all patients to assess the auditory side effects of the drug.

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Objectives: This study aims to investigate the serotransferrin (TF), complement C1s subcomponent (C1S), immunoglobulin heavy constant gamma 4 (IGHG4), hemoglobin subunit alpha (HBA1), and clusterin (CLU) contents in β-thalassemia patients, and explores their physiological role as potential non-invasive bioindicators for disease diagnosis and iron overload.

Methods: A total of 62 children with β-thalassemia were recruited and categorized by genotype, along with 17 healthy pediatric volunteers for analysis. The circulating ferritin content was evaluated, and plasma levels of TF, C1S, IGHG4, HBA1, and CLU were assessed using ELISA.

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Objective: To explore the effect of the Mentzer Index (MI) in screening for children thalassemia (TT) minor.

Methods: We determined the MI cutoff value of diagnosing TT minor in children by utilizing a receiver operating characteristic (ROC) curve. Samples with MI values below this threshold, and no detectable gene mutations or IDA were further analyzed using Sanger sequencing or specific primer GAP-PCR.

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Standardization of hemoglobin A and hemoglobin F: Achievements and perspectives.

Clin Chim Acta

December 2024

EC, Joint Research Centre, Directorate F - Health and Food, Reference Materials Unit, Geel, Belgium.

The establishment of reference systems for the standardization of hemoglobin A (HbA) and fetal hemoglobin (HbF), both critical for improving diagnostic accuracy in conditions such as β-thalassemia and sickle cell disease, are described. Efforts were led by the IFCC and other groups to address and reduce the variability in laboratory measurements of these hemoglobins. This document outlines the production of certified reference materials (CRMs) for HbA and the development of a reference measurement procedure using isotope dilution mass spectrometry.

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The role of miR-129-5p in regulating γ-globin expression and erythropoiesis in β-thalassemia.

Hum Mol Genet

December 2024

College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, 88 Jiaotong Road, Taijiang District, Fuzhou 350004, China.

The regulation of γ-globin expression is crucial due to its beneficial effects on diseases like β-thalassemia and sickle cell disease. B-cell lymphoma/leukemia 11A (BCL11A) is a significant suppressor of γ-globin, and microRNAs (miRNAs) targeting BCL11A have been shown to alleviate this suppression. In our previous high-throughput sequencing, we identified an 11.

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Abnormalities of teeth and jaws in thalassemia pediatric patients.

Spec Care Dentist

December 2024

Division of Orthodontics, Department of Preventive Dentistry, Faculty of Dentistry, Khon Kaen University, Khon Kaen, Thailand.

Aims: To assess the prevalence of abnormalities of teeth and jaws in thalassemia patients and their association with the severity and type of thalassemia.

Methods And Results: This cross-sectional study was conducted among thalassemia patients, attending the Pediatric Outpatient Clinic at a university hospital in Thailand. Data were collected from medical records, clinical and orthopantomographic examinations.

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We identified 347 pregnancies in patients with beta thalassemia minor. Hemoglobin was below 9 g/dL in 31% during third trimester and 7.6% at delivery.

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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.

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Introduction HbA1c values used for diagnosing and treating diabetes can be affected by factors such as red blood cell lifespan, hemolysis, red cell transfusion, and the presence of minor Hb species like HbA2 and HBF in hemoglobinopathies like sickle cell disease, homozygous HbC disease, HbSC disease, and β-thalassemia. This study aims to compare HbA1c levels in transfusion-dependent thalassemia (TDT) patients and healthy individuals. Materials and methods This is a cross-sectional comparative study.

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Background: Allogeneic hematopoietic stem cell transplantation (allo-HSCT) has proven to be an effective curative intervention for children with β-thalassemia major (β-TM). They are susceptible to growth disorders due various factors. The primary objective of this study was to investigate the growth and development of children with β-TM both before and after undergoing allo-HSCT during a one-year follow-up period.

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Luspatercept: a treatment for ineffective erythropoiesis in thalassemia.

Hematology Am Soc Hematol Educ Program

December 2024

Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

Patients with β-thalassemia continue to have several unmet needs. In non-transfusion-dependent patients, untreated ineffective erythropoiesis and anemia have been associated with a variety of clinical sequelae, with no treatment currently available beyond supportive transfusions. In transfusion-dependent forms, lifelong transfusion and iron chelation therapy are associated with considerable clinical, psychological, and economic burden on the patient and health care system.

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In this report, we describe a case of homozygous delta-beta (δβ) thalassaemia, a rare genetic disorder characterized by severe deficiency in delta (δ) and beta (β)-globin chain production, leading to ineffective erythropoiesis and chronic haemolytic anaemia. The patient, a 26-year-old female with δβ-thalassaemia, experienced a miscarriage. High-performance liquid chromatography revealed 89.

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Deferasirox (DFX) is widely used to manage β-thalassemia major (β-TM), but its oral administration is limited by low bioavailability and side effects. To address these challenges, we developed iron-responsive nanoparticles (NP-IR) of DFX using ferrocene as the iron-responsive material, incorporated into dissolving microneedles (DMN) for transdermal delivery. The NP-IR measured 276.

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