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, MANJU DATTA CHOUDHURY, DAS, Manikanchan, DASGUPTA, Uma B
• Format: Journal Article
• Language: English
• Published: Oxford Blackwell 01-08-2005; Blackwell Publishing Ltd
• Subjects: Adolescent; Adult; alpha-Thalassemia - blood; alpha-Thalassemia - ethnology; alpha-Thalassemia - genetics; Anemias. Hemoglobinopathies; Biological and medical sciences; Child; Child, Preschool; Chromosome aberrations; Diseases of red blood cells; Ethnic Groups; Female; Gene Deletion; Gene Frequency; Globins - genetics; Hematologic and hematopoietic diseases; Hematology; Humans; India; Infant; Male; Medical genetics; Medical sciences; Middle Aged; Asia; India; Human; alpha-thalassaemia, deletion; Hemoglobinopathy; Gene cluster; Hematology; Thalassemia; Hemopathy; KOL, India, Alu repeats; Genetic disease; Alu sequence; Hemolytic anemia; Deletion; Alpha globin; Indian
• ISSN: 0007-1048; 1365-2141
• DOI: 10.1111/j.1365-2141.2005.05626.x

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%).