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Beta-thalassemia (β-thalassemia) is an inherited blood disorder, and a form of thalassemia resulting in variable outcomes ranging from clinically asymptomatic to severe anemia individuals. It is caused by reduced or absent synthesis of the beta chains of hemoglobin , the molecule that carries oxygen in the blood. [ 5 ]
Hemoglobin E/ beta thalassemia: common in Cambodia, Thailand, and parts of India, it is clinically similar to β thalassemia major or β thalassemia intermedia. [34] Hemoglobin S/ beta thalassemia: common in African and Mediterranean populations, it is clinically similar to sickle-cell anemia. [35] Delta-beta thalassemia is a rare form of ...
A number of studies have shown that the HbE mutation provides a degree of protection against infection with malaria, in common with some other hemoglobinopathies. It is therefore probable that natural selection for the gene may explain why it is most prevalent in parts of the world where malaria has historically been endemic .
TDTs include beta-thalassemia major, hemoglobin H disease, and severe HbE/beta-thalassemia. NTDT does not need regular transfusions but may require transfusion in case of an anemia crisis. [9] Complications of transfusion include iron overload with resulting heart or liver disease. [1]
Beta-thalassemia is a genetic disease mostly caused by beta-globin gene mutations. [18] Clinical diagnosis is based on interpretation of the peripheral blood smear, which examines red blood cell morphology, followed by hemoglobin analysis and confirmed by DNA sequencing.
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia.Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. [4]
Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell disease . [ 1 ] [ 2 ]
One study demonstrated that after 4–5 years of deferasirox treatment the mean LIC levels of patients decreased from 17.4 ± 10.5 to 9.6 ± 8.0 mg Fe/g. This study showed that long-term treatment did result in a sustainable reduction in the iron burden faced by patients receiving blood transfusions for thalassemia. [24]