IthaID: 2237

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --AW HGVS Name: NG_000006.1:g.32143_40317delinsCTCCCTGGACAAGT
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion covers 8.2 kb, removing both α-globin genes. The 5' breakpoint is located at position 161279, and the 3' breakpoint is located at position 169453 (UCSC Genome Browser, March 2006). The deletion is caused by a non-homologous recombination event between an Alu and an L1-repeat sequence.

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: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 8174 kb
Deletion involves: α2, α1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Phylipsen M, Vogelaar IP, Schaap RA, Arkesteijn SG, Boxma GL, van Helden WC, Wildschut IC, de Bruin-Roest AC, Giordano PC, Harteveld CL, A new alpha(0)-thalassemia deletion found in a Dutch family (--(AW))., Blood Cells Mol. Dis. , 45(2), 133-5, 2010
Created on 2013-10-03 15:27:40, Last reviewed on 2018-01-15 17:17:16 (Show full history)

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