IthaID: 3889



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)Aurora Borealis HGVS Name: NC_000016.10:g.(48303_50379)_ (165612_167685)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion removes the complete regulatory region, including HS-40, leaving the downstream α-globin genes intact. A panel of TaqManVR assays (Thermo Fisher Scientific) distributed from POLR3K to HBM showed that the deletion covered a region of minimum 115.2 kb. The characterization of the exact breakpoints of the deletion was unsuccessful, hence the maximum length is 119.4 kb. HGVS name follows the probe-based HGVS Sequence Variant Nomeclature recommendations.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 119.382 kb
Deletion involves: HS40, ζ, NPRL3, HBM

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

Sequence Viewer

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Publications / Origin

  1. Grimholt RM, Fjeld B, Klingenberg O, Hemoglobinopathy gone astray-three novel forms of α-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing., Scand J Clin Lab Invest, 2021 PubMed
Created on 2022-02-03 13:01:26, Last reviewed on (Show full history)

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