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[45] [46] [47] These treatments have resulted in longer life expectancy for those with thalassemia major. [45] Deferoxamine is only effective as a daily injection, complicating its long-term use. However, it is inexpensive and safe. Adverse effects include primary skin reactions around the injection site and hearing loss. [45]
Transfusion-dependent anemia is a form of anemia characterized by the need for continuous blood transfusion. It is a condition that results from various diseases, and is associated with decreased survival rates. [1][2] Regular transfusion is required to reduce the symptoms of anemia by increasing functional red blood cells and hemoglobin count.
Alpha-thalassemia mental retardation syndrome (ATRX), also called alpha-thalassemia X-linked intellectual disability syndrome, nondeletion type or ATR-X syndrome, [1] is an X-linked recessive condition associated with a mutation in the ATRX gene. [2] Males with this condition tend to be moderately intellectually disabled and have physical ...
Thalassemia results in nontransferrin-bound iron being available in blood as all the transferrin becomes fully saturated. This free iron is toxic to the body since it catalyzes reactions that generate free hydroxyl radicals. [6] These radicals may induce lipid peroxidation of organelles like lysosomes, mitochondria, and sarcoplasmic membranes.
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 [5] and HBA2. [6] Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 7 ]
Hemoglobin H disease is a genetic disorder resulting in absent or impaired production of the α-globin protein, a normal component of the hemoglobin. The disease occurs when the α-globin gene expression is reduced to less than 30% of the normal expression. [2] In a healthy individual there are four copies of the gene which encode the alpha ...
Cooley's Anemia Foundation. Cooley’s Anemia Foundation ( CAF) is an American 501 (c) (3) nonprofit organization that funds medical research and education to benefit individuals living with the genetic blood disorder thalassemia. The major form of this disorder is also known as Cooley's anemia.
Sickle cell-beta thalassemia. Sickle cell beta thalassemia. Other names. Sickle cell-β thalassemia. Specialty. Hematology. 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]
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