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Beta thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. It can be prevented if one parent has normal genes, giving rise to screenings that empower carriers to select partners with normal hemoglobin.
Beta thalassemia symptoms typically begin to show during the first six months of life, as the body winds down production of fetal hemoglobin HbF. In a normal individual, this would be replaced by adult hemoglobin HbA.
Diagnosis of transfusion dependent anemia is challenging because this anemia is caused by multiple diseases. [12] Therefore, other than diagnosing anemias that require transfusion, diagnosis for the two main causes (beta-thalassemia and myelodysplastic syndromes) of transfusion dependent anemia is also important. [citation needed]
The groundbreaking treatment can now also be used to treat transfusion-dependent beta thalassemia in people 12 and older. Like sickle cell, beta thalassemia is an inherited blood disorder.
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 ...
Mild thalassemia : patients with thalassemia traits do not require medical or follow-up care after the initial diagnosis is made. [2] Patients with β-thalassemia trait should be warned that their condition can be misdiagnosed for the common Iron deficiency anemia.
Betibeglogene autotemcel, sold under the brand name Zynteglo, is a gene therapy for the treatment for beta thalassemia. [1] [5] [2] It was developed by Bluebird Bio and was given breakthrough therapy designation by the US Food and Drug Administration in February 2015.
Recommended course of treatment depends on the nature and severity of the symptoms and may involve close monitoring of hemoglobin levels, folic acid supplements, and potentially regular blood transfusions. [8] There is a variety of phenotypes depending on the interaction of HbE and α-thalassemia.
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