title: 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.
abstract: 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 bp downstream of the theta1 gene. Other deletions present in 120 unrelated, eastern Indian, putative alpha-thalassaemia patients are -3.7 kb (16.25%), -4.2 kb (5%) and - -SEA (3.33%).
authors.affiliation: Department of Biophysics Molecular Biology and Genetics, Calcutta University, Calcutta, India.
authors.forename: Anjali Angelika
authors.initials: AA
authors.lastname: Sarkar
authors.forename: Subrata
authors.initials: S
authors.lastname: Banerjee
authors.forename: Sharmila
authors.initials: S
authors.lastname: Chandra
authors.forename: Moloy
authors.initials: M
authors.lastname: Ghosh
authors.forename: Debashish
authors.initials: D
authors.lastname: Banerjee
authors.forename: Manju Datta
authors.initials: MD
authors.lastname: Choudhury
authors.forename: Manikanchan
authors.initials: M
authors.lastname: Das
authors.forename: Uma B
authors.initials: UB
authors.lastname: Dasgupta
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D008875:Middle Aged; D017085:alpha-Thalassemia / Q000097:blood / Q000208:ethnology / Q000235:genetics*
chemical_list: D005914:Globins