Thalassemia, group of blood disorders characterized by a deficiency of hemoglobin, the blood protein that transports oxygen to the tissues.Thalassemia (Greek: “sea blood”) is so called because it was first discovered among peoples around the Mediterranean Sea, among whom its incidence is high.Thalassemia genes are widely distributed in the world but are found most often among people … Beta-thalassemia is caused by mutations in the β-globin gene, resulting in partial or complete deficiency of its product. 11 When beta-globin chains are absent, alpha-globin chains and their degradation products precipitate, causing ineffective erythropoiesis and hemolysis, … The pathogenesis of osteoporosis in TM is multifactorial, and includes bone marrow expansion, endocrine dysfunction and iron overload. There are two genes on chromosome 11 that are required to produce the beta region of the haemoglobin chain, each of which is inherited from one parent. The last part explores the scientific tracks that present a real therapeutic potential in β-Thalassemia. The reason for this is, at least in part, due to the lack of full understanding of pathophysiology of thalassemia. Moreover, thalassemia-specific risk assessment model for thromboprophylaxis may need to be developed due to distinctive pathophysiology of thromboembolism in patients with beta-thalassemia disease. Beta thalassemias (β thalassemias) are a group of inherited blood disorders.They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. The severe form of beta thalassemia is known as thalassemia major or Cooley's anemia. The reasons underlying the heterogeneity and occasional severity of the syndrome remain obscure. Ursächlich ist eine Mutation im ß-Globin-Gen (HBB), das auf dem kurzen Arm von Chromosom 11 lokalisiert ist. This condition is called thalassemia minor or beta-thalassemia. focusing on pathophysiology, clinical features, complication, management, screening and diagnosis. Two mutated genes, your signs and symptoms will be moderate to severe. Global annual incidence is estimated at one in 100,000. If both genes are affected, the result is moderate to severe anemia.

This deficiency and the accompanying excess of the unmatched α-globin chains result in oxidative stress, dyserythropoiesis, and chronic anemia. Literature sources published in English since 1990 were searched, using the terms beta-thalassemia, renal disease. Beta thalassemia is a blood disorder that reduces the production of hemoglobin.Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body. Hemoglobin S–beta-thalassemia disease is a hemoglobinopathy that causes symptoms similar to those of sickle cell disease, but less severe.
This discussion will focus on the mechanisms by which the excess unmatched beta globin chain synthesis in alpha thalassemia leads to increased red blood cell destruction (hemolysis). The underlying basis of thalassemia pathology is the premature apoptotic destruction of erythroblasts causing ineffective erythropoeisis. Almost all cells have some capacity to detoxify and remove damaging proteins via multiple biochemical pathways termed …

(See also Overview of Hemolytic Anemia.) The pathophysiology of thromboembolism in beta-thalassemia disease is the combinations of abnormalities in several parts of hemostatic system including [9, 12]:Exposure of phosphatidylserine (PS) to external membrane of abnormal RBCs called “flip-flop phenomenon” which is caused by the decrease of normal asymmetrical dissemination of RBC membrane phospholipids []. Formerly the distribution of thalassemia had been mainly limited to the areas from the Mediterranean basin through the Middle East and Indian subcontinent up to Southeast Asia so called thalassemia belt (Che rnoff, 1959). In beta-thalassemia, HRI is essential in determining RBC size, number, and Hb content, in reducing excess synthesis of globin chains and heme under suboptimal conditions, and finally in reducing the severity of the disease [1,2••-4••].

Results: Renal disease is considered to be the 4th cause of morbidity among patients with transfusion dependent thalassemia. 1 Definition. This condition is called thalassemia major, or Cooley anemia. There are two genes on chromosome 11 that are required to produce the beta region of the haemoglobin chain, each of which is inherited from one parent. the published evidence on the epidemiology and pathophysiology of renal disease in thalassemia. The pathophysiology of β-thalassemia has been compared with other disorders such as Parkinson’s disease and Huntington’s disease, which are caused by accumulations of unstable, aggregation-prone proteins (Khandros and Weiss 2010; Khandros et al. Beta-thalassemia occurs due to insufficient synthesis of beta-haemoglobin chains and an excess of alpha chains. Additional genetic factors, such as the COLIA 1 gene polymorp … In this article we give a view on the pathophysiology, clinical manifestations, genetic origin of beta-thalassaemia major. Normally, the assembly of adult hemoglobin (consisting of a tetramer of two α- and two β-globin chains) features a very tight coordination of α- and …
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