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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-caused by mutations in the HEXA gene. More than 120 mutations that cause Tay-Sachs disease have been identified in the HEXA gene.These mutations reduce or eliminate the activity of the enzyme beta-hexosaminidase A, which prevents the enzyme from breaking down GM2 ganglioside.ay-Sachs disease-caused by mutations in the HEXA gene. More than 120 mutations that cause Tay-Sachs disease have been identified in the HEXA gene.