IthaID: 3607



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 63 Kb deletion HGVS Name: NC_000016.10:g.(143655_149367)_(181204_206338)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The novel α0-thal deletion found in combination with the rightward –α3.7 deletion, causing Hb H disease in a 3-month-old female from India. The deletion removed HBA2 and HBA1 and spanned the region from HBZ to HBQ1, with the upstream major regulatory element HS-40 remaining intact. The 5’ breakpoint is localised between the positions 143655 and 149367 while the 3’ breakpoint is localized between 181204 and 206338 (coordinates: GRCh38.p13, NC_000016.10). As the breakpoints are not clearly defined the deletion size is just an approximation.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 4518
Size: 62.682 kb
Deletion involves: ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Moore JA, Pullon BM, Drake KM, Brennan SO, Novel α-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease., Hemoglobin, 44(4), 1-5, 2020 PubMed
Created on 2020-08-07 10:49:00, Last reviewed on 2020-08-10 11:14:09 (Show full history)

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