Microdeletion of exon 3 in the HBA2 gene associated with mild α-thalassemia trait.
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.
Department of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, British Columbia, Canada.
Anne
A
Lambert
Ann Y K
AY
Wong
Yohji
Y
Kominami
Valerie C
VC
Smith
Suseela
S
Reddy
Louis D
LD
Wadsworth
Nicholas H C
NH
Au
Ross T A
RT
MacGillivray
D000328:Adult; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D006443:Hemoglobin A2 / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*
D006443:Hemoglobin A2