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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 ]
16,800 (2015) [6] Thalassemias are inherited blood disorders that result in abnormal hemoglobin. [7] Symptoms depend on the type of thalassemia and can vary from none to severe. [1] Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the ...
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.
If the person does not have an HLA-matched compatible donor, there is another method called bone marrow transplantation from haploidentical mother to child (mismatched donor), in which the donor is the mother. The results are these: thalassemia-free survival rate 70%, rejection 23%, and mortality 7%. The best results are with very young people ...
In α-thalassemia, which is relatively frequent in Africa and several other countries, production of the α-chain of hemoglobin is impaired, and there is relative over-production of the β-chain. Individuals homozygous for β-thalassemia have severe anemia and are unlikely to survive and reproduce, so selection against the gene is strong.
Hemoglobin variants occur when there are genetic changes in specific genes, or globins, that cause changes or alterations in the amino acid. They could affect the structure, behavior, the production rate, and/or the stability of that specific gene. Usually there are four genes that code for alpha globin and two genes that code for beta globin.
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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 ...
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