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terminator codon mutations and hypofunctional genes responsible for various Î±-thalassemia syndromes [6]. Î±-thalassemia can be suspected based on factors such as a family history of anemia and ethnic and geographic backgrounds, particularly if the patients
Tay-Sachs disease is caused by a change (mutation) in the hexosaminidase subunit alpha (HEXA) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent.