|
Functionality:
|
Globin gene causative mutation |
Pathogenicity:
|
N/A |
|
Common Name:
|
7.2 kb deletion |
HGVS Name:
|
NC_000011.10:g.5222800_5230034del |
|
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 7.2 kb on the β-globin gene cluster, removing all of the HBB gene, and was initially reported as a heterozygote in a Chinese proband, a 32-year-old male with abnormal values of routine hematological indices. MLPA result showed the deletion across 10 probes targeting HBB gene (deletion probes involved 10 probes between hg38 loc. 11p15.4: 5224905-5229846, including HBB-up, HBB-1, HBB-1 (WT) c., HBB-Intr.1, HBB-Intr.2, HBB-3 and HBB-down regions). TGS result showed the exact length of the deletion was 7.2 Kb (Chr11:5222800-5230034, hg38) located at HBB gene. Gap-PCR and Sanger sequencing validated the deletion breakpoints.
