Double heterozygote leftward/rightward deletion type alpha-thalassaemia in Saudi Arabs.
Restriction endonucleases have been used for the investigation of deletion type alpha-thalassaemias in the Saudi population. Using Bgl II digestion, we diagnosed 2 cases with 15.8- and 7.0-kb alpha-globin gene fragments. The 15.8-kb Bgl 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.
D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D004262:DNA Restriction Enzymes; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D012529:Saudi Arabia; D013789:Thalassemia / Q000235:genetics*
D004262:DNA Restriction Enzymes