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Hemoglobin. 2013;37(2):192-6. doi: 10.3109/03630269.2013.763257. Epub 2013 Jan 29.

Microdeletion of exon 3 in the HBA2 gene associated with mild α-thalassemia trait.

Author information

1
Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.

Abstract

A mother and son presented with mild symptoms of thalassemia trait. Polymerase chain reaction (PCR) amplification of their globin genes revealed a previously unreported 203 bp microdeletion in the HBA2 gene (NG_000006.1:g.34305_34507del; HBA2:c301-30_*44del). Both mother and son were heterozygous for the deletion which included DNA coding for all of exon 3. DNA sequence analysis revealed a six nucleotide repeat (5'-CGGGCC-3') flanking the breakpoint, suggesting that the microdeletion may have arisen as a result of reciprocal recombination within the HBA2 alleles.

PMID:
23356414
DOI:
10.3109/03630269.2013.763257
[Indexed for MEDLINE]

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