|
Functionality:
|
Disease modifying mutation |
Pathogenicity:
|
N/A |
|
Common Name:
|
ααα(anti4.2del726bp) |
HGVS Name:
|
NC_000016.10:g.170769_174300dupinsAAAAAA |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The α-globin gene triplication consists of two complete HBA2 genes and one complete HBA1 gene. It was identified in combination with the heterozygous -α3.7 deletion [IthaID: 300] and the β CD 41/42 (-CTTT) variant [IthaID: 147], presenting with microcytic hypochromic anemia. Additionally, it was observed in the heterozygous state with normal hematological indices and, together with Hb Constant Spring [IthaID: 418], in an assumed asymptomatic newborn from the same family. Detection was achieved through third-generation sequencing (TGS) and further validated by multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing. The breakpoints have been defined and differ from those of ααα(anti-4.2) [IthaID: 2569], with a total length difference of 726 bp.
