OBJECTIVE: To investigate the prevalence of beta-thalassemia (beta-thal) heterozygotes compound alpha-thal in Guangdong area.METHODS: alpha-thal 1 genes were amplified in 500 beta-thal carriers diagnosed by reverse dot blotting (RDB) using gap-PCR method, alpha-thal 2 genes were detected in 400 of the 500 beta-thal carriers using Southern blotting with alpha-globin DNA probe and restrict endonuclease zymogram analytical method.RESULTS: Forty three alpha-thal-1(alpha alpha/- -SEA) cases were identified in the 500 beta-thal traits, and 26 alpha-thal 2 including 17 rightward deletion (alpha alpha/- alpha 3.7) and 9 leftward deletion(alpha alpha/-alpha 4.2) cases were identified in the 400 beta-thal traits.CONCLUSION: The prevalence of beta-thal heterozygote carrying alpha-thal-1 gene was 8.6% and that of beta-thal heterozygote carrying alpha-thal-2 gene was 6.5% (4.2% rightward deletion and 2.2% leftward deletion).
Adult Blotting, Southern