A novel 33·3 kb deletion (‐ ‐KOL) in the alpha‐globin gene cluster: a brief report on deletional alpha‐thalassaemia in the heterogeneous eastern Indian population

• Published in: British journal of haematology Vol. 130; no. 3; pp. 454 - 457
• Main Authors: Sarkar, Anjali Angelika, Banerjee, Subrata, Chandra, Sharmila, Ghosh, Moloy, Banerjee, Debashish, Choudhury, Manju Datta, Das, Manikanchan, Dasgupta, Uma B.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Science Ltd 01.08.2005
• Subjects: alpha‐thalassaemia; Alu repeats; deletion; India; KOL

Summary We have detected, in three unrelated eastern Indian individuals, a hitherto unreported alpha zero deletion, ‐ ‐KOL, in the heterozygous state, encompassing the embryonic zeta2‐globin and the duplicated alpha‐globin genes extending from c. 1150 bp upstream of the zeta2 globin gene to c. 960 b...