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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%). [ABSTRACT FROM AUTHOR]

Haemoglobin (Hb) Sun Prairie (α2-globin cd130,CT→CT, Ala→Pro) is detected in three unrelated chromosomes, in association with a C→T transition in the 5′-untranslated region (UTR), two bases upstream from the translation start site. Reported inversion ofα/β-mRNA ratio observed in Hb Sun Prairie mutants might stem from the second mutation and should be investigated. Molecular modelling studies indicate that the 130th residue ofα-globin faces primarily the central cavity of the molecule and is not in contact with anyβ-chain residue; further, no significant disruption of the Hb structure because of the Sun Prairie mutation is discernible. Depression of translation because of the second mutation of a conserved base in the 5′-UTR might explain the observed clinical severity. [ABSTRACT FROM AUTHOR]