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

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...

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Bibliographic Details
Published inBritish 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
LanguageEnglish
Published Oxford, UK Blackwell Science Ltd 01.08.2005
Subjects
alpha‐thalassaemia
Alu repeats
deletion
India
KOL
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Summary: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 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%).
ISSN:0007-1048
1365-2141
DOI:10.1111/j.1365-2141.2005.05626.x