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International Journal of Molecular... Nov 2023Hemoglobinopathies, including β-thalassemia and sickle cell disease (SCD), are common genetic blood disorders. Endocrine disorders are frequent manifestations of organ... (Review)
Review
Hemoglobinopathies, including β-thalassemia and sickle cell disease (SCD), are common genetic blood disorders. Endocrine disorders are frequent manifestations of organ damage observed mainly in patients with β-thalassemia and rarely in SCD. Iron overload, oxidative stress-induced cellular damage, chronic anemia, and HCV infection contribute to the development of endocrinopathies in β-thalassemia. The above factors, combined with vaso-occlusive events and microcirculation defects, are crucial for endocrine dysfunction in SCD patients. These endocrinopathies include diabetes mellitus, hypothyroidism, parathyroid dysfunction, gonadal and growth failure, osteoporosis, and adrenal insufficiency, affecting the quality of life of these patients. Thus, we aim to provide current knowledge and data about the epidemiology, pathogenesis, diagnosis, and management of endocrine disorders in β-thalassemia and SCD. We conducted a comprehensive review of the literature and examined the available data, mostly using the PubMed and Medline search engines for original articles. In the era of precision medicine, more studies investigating the potential role of genetic modifiers in the development of endocrinopathies in hemoglobinopathies are essential.
Topics: Humans; Iron; beta-Thalassemia; Quality of Life; Hemoglobinopathies; Anemia, Sickle Cell; Diabetes Mellitus
PubMed: 38003451
DOI: 10.3390/ijms242216263 -
Revue Medicale Suisse Mar 2024
Topics: Humans; Anemia, Sickle Cell
PubMed: 38563543
DOI: 10.53738/REVMED.2024.20.867.672 -
Clinica Chimica Acta; International... Jan 2024Hemoglobin (Hb) abnormalities, such as thalassemia and structural Hb variants, are among the most prevalent inherited diseases and are associated with significant... (Review)
Review
Hemoglobin (Hb) abnormalities, such as thalassemia and structural Hb variants, are among the most prevalent inherited diseases and are associated with significant mortality and morbidity worldwide. However, there were not comprehensive reviews focusing on different clinical analytical techniques, research methods and artificial intelligence (AI) used in clinical screening and research on hemoglobinopathies. Hence the review offers a comprehensive summary of recent advancements and breakthroughs in the detection of aberrant Hbs, research methods and AI uses as well as the present restrictions anddifficulties in hemoglobinopathies. Recent advances in cation exchange high performance liquid chromatography (HPLC), capillary zone electrophoresis (CZE), isoelectric focusing (IEF), flow cytometry, mass spectrometry (MS) and polymerase chain reaction (PCR) etc have allowed for the definitive detection by using advanced AIand portable point of care tests (POCT) integrating with smartphone microscopic classification, machine learning (ML) model, complete blood counts (CBC), imaging-based method, speedy immunoassay, and electrochemical-, microfluidic- and sensing-related platforms. In addition, to confirm and validate unidentified and novel Hbs, highly specialized genetic based techniques like PCR, reverse transcribed (RT)-PCR, DNA microarray, sequencing of genomic DNA, and sequencing of RT-PCR amplified globin cDNA of the gene of interest have been used. Hence, adequate utilization and improvement of available diagnostic and screening technologies are important for the control and management of hemoglobinopathies.
Topics: Humans; Hemoglobins, Abnormal; Artificial Intelligence; Hemoglobinopathies; Thalassemia; Hemoglobins; Isoelectric Focusing; Chromatography, High Pressure Liquid
PubMed: 38030031
DOI: 10.1016/j.cca.2023.117685 -
Blood Jul 2023
Topics: Pregnancy; Female; Humans; Animals; Mice; beta-Thalassemia; Placenta; Prenatal Care; Fetus; Iron
PubMed: 37440270
DOI: 10.1182/blood.2023020924 -
Pediatric Annals Feb 2024Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy that affects individuals worldwide. The mutation in the beta-globin gene leads to abnormal... (Review)
Review
Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy that affects individuals worldwide. The mutation in the beta-globin gene leads to abnormal hemoglobin production, sickle hemoglobin, which polymerizes under stress leading to, among other end-organ manifestations, chronic hemolytic anemia, debilitating vaso-occlusive crises, and stroke. Unfortunately, chronic stress on end-organs impacts the life expectancy of patients with SCD, which in the United States averages 43 years, approximately 36 years less than people without the disease. Here, we review the progress made in curative interventions for those with SCD, namely allogeneic hematopoietic cell transplantation and gene therapy. These interventions continue to evolve as we better understand SCD pathophysiology, use new graft-versus-host disease prophylaxis regimens, expand stem cell donor options, and understand the genetic control of hemoglobin production. Although significant progress has been made, many gaps remain in the successful implementation of these interventions globally and for all patients. .
Topics: Humans; Anemia, Sickle Cell; Hematopoietic Stem Cell Transplantation; Stroke
PubMed: 38302122
DOI: 10.3928/19382359-20231205-06 -
Joint Bone Spine May 2024
Topics: Humans; Male; beta-Thalassemia; Skull; Thalassemia; Adolescent
PubMed: 38104657
DOI: 10.1016/j.jbspin.2023.105675 -
American Journal of Hematology Oct 2023
Topics: Adult; Humans; Anemia, Sickle Cell; Severity of Illness Index
PubMed: 37449407
DOI: 10.1002/ajh.27024 -
Blood Sep 2023
Topics: Humans; beta-Thalassemia; Physical Therapy Modalities; MicroRNAs; Autophagy-Related Protein-1 Homolog; Intracellular Signaling Peptides and Proteins
PubMed: 37676694
DOI: 10.1182/blood.2023021369 -
Clinical Journal of the American... Nov 2023
Topics: Humans; Sickle Cell Trait; Proteome; Anemia, Sickle Cell
PubMed: 37783470
DOI: 10.2215/CJN.0000000000000320 -
The Lancet. Child & Adolescent Health Nov 2023Sickle cell disease is the most common inherited pathological haemoglobinopathy. Over the past 30 years, disease-related morbidity and mortality have improved in... (Review)
Review
Sickle cell disease is the most common inherited pathological haemoglobinopathy. Over the past 30 years, disease-related morbidity and mortality have improved in high-income countries due to advances in preventive care and treatments. Established disease-modifying therapies, such as hydroxyurea (hydrocarbamide), are continuing to have an important role in the treatment of sickle cell disease, and newer agents also show promise. In the past 5 years, the US Food and Drug Administration approved three additional sickle cell disease-modifying medications, and new gene therapies have been developed as an alternative curative treatment to haematopoietic stem-cell transplantation. In this Review, we discuss the current treatment landscape for paediatric sickle cell disease and emerging innovations in care. We also review the need for close, long-term management for children receiving newer therapies and the importance of ongoing investment in people with sickle cell disease in low-income and middle-income countries.
Topics: United States; Child; Humans; Anemia, Sickle Cell; Hydroxyurea; Hematopoietic Stem Cell Transplantation; Genetic Therapy; United States Food and Drug Administration
PubMed: 37858508
DOI: 10.1016/S2352-4642(23)00201-8