IthaID: 4062

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 285 kb deletion HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Large deletion of about 285 kb in size, extending from the WASH4P gene (telomeric region) in 5’ to a part of the AXIN1 gene in 3’. Removes the entire WASH4P gene, the α-globin gene cluster, and exons 5 to 10 of the AXIN1 gene. Found together with the -α3.7 deletion in trans in a proband with Hb H disease. The proband presented with scoliosis, likely a consequence of the genetic defect in AXIN1. The deletion associated with an α0-thalassemia phenotype and not the ATR-16 syndrome. Mother was heterozygous for the deletion.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 285 kb
Deletion involves: HS40, ζ, α2, α1, HBM, AXIN1

Other details

Type of Mutation: Deletion
Ethnic Origin: French/Algerian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Joly P, Lacan P, Labalme A, Bonhomme E, Sanlaville D, Francina A, A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease., Haematologica, 95(5), 850-1, 2010 PubMed
Created on 2023-07-06 11:47:35, Last reviewed on (Show full history)

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