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.
ACKNOWLEDGMENTS
We would like to thank Dr. K.J. Atkinson (General Practitioner, Vancouver, BC, Canada) for providing the relevant clinical details.
Declaration of Interest: This study was supported in part by a grant from the Canadian Institutes of Health Research (to RTAM). AYKW was supported by a graduate fellowship from Canadian Blood Services. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.