Polymerase chain reaction amplification applied to the direct detection of a 4 bp deletion in the promoter region of the Aγ gene

Abstract
We report here the identification of a 4 bp deletion in the AγT globin gene promoter by means of Fnu4Hl digestion of DNA amplified by polymerase chain reaction (PCR). This deletion has been previously associated with haplotype II β‐thalassemia in Sardinia. This simple, non‐radioactive procedure should facilitate the screening of various populations of normal and β‐thalassemic subjects for this specific genetic alteration.