|
Functionality:
|
Globin gene causative mutation |
Pathogenicity:
|
N/A |
|
Common Name:
|
(αα)107kb deletion |
HGVS Name:
|
NC_000016.10:g.44082_151511del |
|
Hb Name:
|
N/A |
Protein Info:
|
N/A |
|
Also known as:
|
|
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion spans approximately 107 kb on the α-globin gene cluster, removing the regulatory element HS-40 but leaving the two α-globin genes intact. Detected in a Chinese proband, 30-year-old female, with mild anemia, by third-generation sequencing, after MLPA failed because that the upstream breakpoint was out of probe scope. The exact breakpoints were validated by Gap-PCR and Sanger sequencing. Sanger sequencing
confirmed the breakpoint in chr16:44082-151511 (GRch38/hg38), indicating that the deletion was 107,429 bp.
The haematological characteristics of the deletion were very similar to the --SEA deletion.
