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.

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

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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