IthaID: 3603

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α6.9 HGVS Name: NG_000006.1:g.29785_36746del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 6.9 kb on the alpha-globin gene cluster, removing the α2 gene but leaving the α1 gene intact. The 5' deletion breakpoint lies in the HBAP1 gene. Deletion breakpoints were determined by MLPA and Gap-PCR analyses. Reported in a compound heterozygous state with --SEA deletion in a proband presenting with HbH disease.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 29785
Size: 6.962 kb
Deletion involves: α2

Other details

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

In silico pathogenicity prediction

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. Zhuang J, Tian J, Wei J, Zheng Y, Zhuang Q, Wang Y, Xie Q, Zeng S, Wang G, Pan Y, Jiang Y, Molecular analysis of a large novel deletion causing α-thalassemia., BMC Med. Genet., 20(1), 74, 2019 PubMed
Created on 2020-07-10 12:03:57, Last reviewed on 2020-08-10 13:35:55 (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.