Thalassemia uptodate. com/en/know/clinical-effectiveness-terms.

Thalassemia uptodate. The deficiencies in hemoglobin synthesis that characterize the various forms of thalassemia arise from pathogenic variants in or near the two globin gene cluste UpToDate UpToDate The pathogenesis and treatment of thalassemia, including the role of hematopoietic stem cell transplantation, monitoring of iron stores, and iron chelation, are discussed in detail separately. Hemoglobin is the oxygen-carrying molecule found in red blood cells, and without it, oxygen cannot effectively reach tissues and organs. Learn more about its symptoms and how it's diagnosed. This topic discusses the use of HCT in patients with transfusion-dependent thalassemia (eg, beta thalassemia major), including predictors of a successful outcome, pretransplant evaluation, donor … Oct 20, 2025 · A general review of the treatment of thalassemia as well as indications for transplantation, pretransplantation evaluation, donor selection, stem cell source, conditioning regimen, and immediate post-transplant hematopoietic support are discussed in detail separately. Thalassemia is an inherited blood disorder that affects your body’s ability to produce hemoglobin and healthy red blood cells. May 6, 2025 · With thalassemia, the body doesn't make enough of either the alpha or the beta chains. In: Hematology: Basic Principles and Practice, 3rd ed, Hoffman R, Benz EJ Jr, Shattil SJ, et al. Hemoglobin Constant Spring (Hb CS) is a non-deletional alpha globin variant relatively common in Southeast Asia and Southern China. Management of the thalassemia syndromes can be challenging due to the numerous potential disease complications and the lack of available therapies other than transfusion and hematopoietic cell transplantation, both of which have associated morbidities and costs. Nov 14, 2019 · Thalassemia is a blood disorder in which the body makes an abnormal form of hemoglobin. A general review of the treatment of thalassemia as well as indications for HCT, pretransplant evaluation, donor selection, stem cell source, conditioning regimen, and immediate post-transplant hematopoietic support are discussed in detail separately. Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. May 10, 2025 · Learn about Thalassemia, an inherited blood disorder causing reduced hemoglobin and anemia. This topic review discusses the clinical manifestations and diagnosis of alpha and beta thalassemia, the two most common forms. p. ) Pathogenesis – (See "Pathophysiology of thalassemia". Thalassemia syndromes. AU INTRODUCTION Allogeneic hematopoietic cell transplantation (HCT) is the only widely available curative therapy for thalassemia (although promising early trials employing gene therapy and gene editing and autologous HCT are underway). Thalassemia is an inherited blood disorder that affects your body’s ability to produce hemoglobin and healthy red blood cells. Nov 21, 2024 · Individuals with thalassemia have variable degrees of anemia and extramedullary hematopoiesis, which in turn can cause bone changes, impaired growth, and iron overload. 485. Indications for testing and clinical care of the tested individual are discussed separately in UpToDate [1]. Sep 10, 2025 · Thalassemia is an inherited blood disorder characterized by the reduced or absent production of hemoglobin. Please sign in to gain access. 2025© UpToDate, Inc. no abstract available 15 PubMed TI The beta-thalassemias. Sep 25, 2025 · Thalassemia is a genetic disorder that affects hemoglobin production and leads to anemia. HCT carries many risks and costs, although it is much less expensive than gene therapy. (Eds), Churchill Livingstone, New York 2000. May 31, 2022 · Thalassemia is an inherited blood disorder that causes the body to make fewer healthy red blood cells and less hemoglobin than normal. com/en/know/clinical-effectiveness-terms. Types include alpha and beta thalassemia. Discover its symptoms, causes, and key prevention strategies, including genetic counseling and screening. This content is only available to UpToDate ® subscribers. Nov 27, 2024 · Thalassemia is a genetic blood disorder that impacts the ability of the blood to get oxygen to the body’s organs. Medline ® Abstracts for References 14-18 of 'Diagnosis of thalassemia (adults and children)' 14 Forget BG. ) Alpha globin gene testing cannot identify beta thalassemia or other conditions affecting beta globin such as sickle cell disease. The degree of erythroid marrow activity was evaluated in these patients and in 32 subjects with beta-thalassemia intermedia through the simple measurement of serum transferrin receptor. The use of this information is governed by the Terms of Use, available at https://www. wolterskluwer. Nevertheless, many individuals will not have access to HCT due to lack of If one parent has alpha thalassemia minor with the deletions in cis (aa/- -) and the partner has any alpha thalassemia disorder, the fetus is at risk for Hb H disease or alpha thalassemia major. Genetics – (See "Molecular genetics of the thalassemia syndromes". That causes you to get either alpha-thalassemia or beta-thalassemia, the two main types of the condition. Learn more about the causes, symptoms, and treatment for the condition. . UpToDate offers a number of subscriptions and add-on products, allowing you to have the most up-to-date information and improve patient care. [7] May 15, 2024 · Thalassemia is an inherited blood disorder in which the body does not make enough hemoglobin, a red blood cell protein that carries oxygen to the cells in the body. Jun 25, 2025 · Management of the thalassemia syndromes can be challenging due to the numerous potential disease complications and the lack of available therapies other than transfusion and hematopoietic cell transplantation, both of which have associated morbidities and costs. and its affiliates and/or licensors. Learn about the signs, how it’s diagnosed & treated. Regular blood transfusions are a key treatment if you have moderate to severe thalassemia. 53l3 hhrrae vgw rjfy o9wda iti bkgbk mw nrp 6k

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