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Hemoglobin
international journal for hemoglobin research
Volume 26, 2002 - Issue 1
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Original

A NOVEL β-THALASSEMIA MUTATION IN AN ASIAN INDIAN

, , , &
Pages 49-57 | Received 11 Jul 2001, Accepted 04 Oct 2001, Published online: 07 Jul 2009
 

Abstract

A novel 7 bp deletion in exon 2 of the β-globin gene in a 9-year-old boy originating from the eastern part of India is described. This deletion causes a shift in the reading frame of the β-globin coding sequences, and consequently, a premature translation termination due to the creation of a stop codon at position 86. A slipped strand mispairing during DNA replication repair is proposed as the potential mechanism in generating this small deletion.

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