IthaID: 1404



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: N/A HGVS Name: NG_000007.3:g.63160_70572dup
Hb Name: Hb Hong Kong Protein Info: βδ hybrid (β through CAP site; δ from exon 1)

Also known as: Hb Anti-Lepore Hong Kong

Comments: Anti-Lepore βδ hybrid. A crossover within a 54-bp region spanning the junction of cap site (CAP) and exon 1. Protein is identical to δ globin.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: N/A
Fusion involves: δ, β

Other details

Type of Mutation: Fusion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

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. So CC, Chan AY, Tsang ST, Lee AC, Au WY, Ma ES, Chan LC, A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia., British journal of haematology, 136(1), 158-62, 2007 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2021-11-23 13:02:22 (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.