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Hemoglobin
international journal for hemoglobin research
Volume 30, 2006 - Issue 2
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ORIGINAL ARTICLE

Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening

, , , , , , & show all
Pages 149-153 | Received 24 Aug 2005, Accepted 23 Nov 2005, Published online: 07 Jul 2009
 

Abstract

We report three new α-thalassemia (thal) point mutations detected during newborn screening for hemoglobinopathies. The first mutation is a single nucleotide deletion (−A) that abolishes the translation initiation codon of the α2-globin gene, detected in a newborn of Hmong ethnicity who carried the Southeast Asian α0-thal deletion (αTα/– –SEA). The second mutation, a frameshift caused by a single nucleotide deletion in exon 2 of the α1-globin gene [codon 78 (−C)], was detected in a Black/Chinese newborn who also carried the Southeast Asian α0-thal deletion (ααT/– –SEA). The third mutation was a frameshift in exon 3 of the α2-globin gene, codons 113/114 (−C). This mutation was detected in a newborn who carried the 3.7 kb α+-thal deletion (αTα/–α3.7).

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