Double Heterozygote Leftward/Rightward Deletion Type Alpha-Thalassaemia in Saudi Arabs

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Abstract
Restriction endonucleases have been used for the investigation of deletion type α-thalassaemias in the Saudi population. Using Bgl II digestion, we diagnosed 2 cases with 15.8- and 7.0-kb α-globin gene fragments. The 15.8-kb Bg1 II fragment is obtained in cases with rightward deletion, while the 7.0-kb fragment occurs in cases with leftward deletion. The 2 cases reported in this paper are heterozygous leftward/rightward deletion cases. The Bam HI digestion results and haematological parameter values are reported. This is the first report of heterozygous leftward/rightward deletion in the Saudi population.