IthaID: 3258

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --NFLD HGVS Name: NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans 90.7 kb on the α-globin gene cluster removing the HBA2, HBA1 and LUC7L genes, as well as exons 1 and 2 of the FAM234A gene. The 5' deletion breakpoint is within the HBAP1 pseudogene, approximately 3.7 kb upstream of the HBA2 gene. The 3' deletion breakpoint is approximately 82.5 kb downstream of the HBA1 gene, within the second intervening sequence (IVS-II) of the FAM234A gene.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 90.7 kb
Deletion involves: α2, α1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Waye JS, Eng B, Hanna M, Hohenadel BA, Nakamura L, Walker L, α(0)-Thalassemia Due to a 90.7 kb Deletion (- -(NFLD))., Hemoglobin , 2017 PubMed
Created on 2017-09-16 10:16:59, Last reviewed on 2018-01-08 19:14:30 (Show full history)

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