Detection of -28 (a>g) beta thalassemia mutation using amplification refractory mutation system (arms)-pcr

Abstract

Beta thalassemia (β thal) is the most common genetic disease of anemia caused by mutations on beta globin gene leading to the reduced (β+) or absent (β°) synthesis of the beta globin Chain of hemoglobin (Hb). More than 200 disease-causing mutations that are common single nucleotide substitutions havc bccn so far characterized. Southeast Asia is the region having the highest incidence of β thal. Therefore, prevention of the disease by genetic counseling and prenatal diagnosis has a pivotal role in thalassemia control in these countries.