IthaID: 3076

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: αααα391 HGVS Name: NC_000016.10:g.101440_492029dup
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The duplication spans about 391 kb and involves the entire α-globin gene cluster, the regulatory region (HS-40) of the α-globin gene and part of the NPRL3 gene, with a breakpoint between 151,483 and 542,029 (GRCh37.p13). Heterozygosity for this duplication defect (6 instead of 4 α-globin genes) associated with a haematologically silent phenotype. Co-inheritance with a β-globin gene defect associated with a β-thalassemia intermedia status.

External Links

No available links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 390.589 kb
Deletion involves: HS40, ζ, α2, α1, NPRL3

Other details

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Jiang H, Liu S, Zhang YL, Wan JH, Li R, Li DZ, Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome., Hemoglobin , 39(2), 102-6, 2015 PubMed
Created on 2016-09-08 19:03:59, Last reviewed on 2021-06-25 12:36:10 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.