Using PCR to Identify the Mutation of α-Thalassemia

Mutations in HBA1 and HBA2 genes cause α-thalassemia. Mutation in these two genes may produce deficient α subunit chains in hemoglobin in the red blood cells, and lead to anemia or even death. Since I was suspect of thalassemia, the objective of this study was to identify if there is any mutation in HBA1 and HBA2 genes in my genomic DNA. Using primers specific to the HBA1 and HBA2 genes, these two genes were amplified by PCR and then sequenced. Dr. Rubin’s genomic DNA was used as a wild-type control. SNPs (single nucleotide polymorphism) were both found in Dr. Rubin’s DNA and my DNA. Almost all of the DNA sequences of my two genes are identical as those published on the NCBI, except SNPs and several deletions in the 5’ untranslated region in both of my two genes.