Screening non-deletion alpha-thalassaemia mutations in the HBA1 and HBA2 genes by high-resolution melting analysis

摘要

Background: Screening for "non-deletion" alpha-chain haemoglobin variants resulting from point mutations or short deletions/insertions has attracted an increased interest during recent years, especially in areas where alpha-thalassaemia is prevalent. We describe a method utilising high resolution melting analysis for detecting the 13 most common "non-deletion" alpha-thalassaemia mutations in populations around the Mediterranean and Middle East.