Abstract
The technique of combining multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (CGH) and gap-polymerase chain reaction (gap-PCR) is an effective way to locate unknown breakpoints on the α-globin genes. In the current report, a novel deletion was detected in two pregnant women with moderate hematological phenotypes. Multiplex ligation-dependent probe amplification and array CGH revealed a probable 9.7 kb deletion at 16p13.3. The breakpoints were precisely defined by gap-PCR and direct sequencing. This deletion (NG_000006.1: g.32709_42418del) included HBA1, HBA2 and HBQ, which resulted in an α0-thalassemia (α0-thal) mutation. There would be a 25.0% chance of conceiving an α-thal intermedia or α-thal major (α-TI or α-TM) fetus if the couples are both carriers. Rare large deletions can cause α-thalassemia (α-thal) and the structure analysis of an unknown deletion is important for clinical diagnosis and further genetic counseling.
Disclosure statement
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.