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Heredity of hemoglobin E/β-thalassemia. People who have hemoglobin E/β-thalassemia have inherited one gene for hemoglobin E from one parent and one gene for β-thalassemia from the other parent. Hemoglobin E/β-thalassemia is a severe disease, and it still has no universal cure.
Patients with thalassemia gradually accumulate high levels of iron (Fe) in their bodies. This build-up of iron may be due to the disease itself, from irregular hemoglobin not properly incorporating adequate iron into its structure, or it may be due to the many blood transfusions received by the patient.
Alpha-thalassemia (α-thalassemia) is defined by a lack of α-globin chain production in hemoglobin, and those who carry a mutation impacting the α-globin chain on only one chromosome are considered to have a “silent” α-thalassemia whereas, if the mutation is on both then it is considered an α-thalassemia trait.
In the UK, exagamglogene autotemcel is indicated for the treatment of transfusion-dependent beta thalassemia and sickle cell disease in patients aged 12 years and older who should be treated with hematopoietic stem cell transplantation but for whom a suitable stem cell donor is not available.
Hemoglobin A2 (HbA 2) is a normal variant of hemoglobin A that consists of two alpha and two delta chains (α 2 δ 2) and is found at low levels in normal human blood.Hemoglobin A2 may be increased in beta thalassemia or in people who are heterozygous for the beta thalassemia gene.
The test uses the principles of gel electrophoresis to separate out the various types of hemoglobin and is a type of native gel electrophoresis.After the sample has been treated to release the hemoglobin from the red cells, it is introduced into a porous gel (usually made of agarose or cellulose acetate) and subjected to an electrical field, most commonly in an alkaline medium.
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