IthaID: 1404



Names and Sequences

Functionality: Globin gene causative mutation
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.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: N/A
Located at: δ, β

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

Other details

Type of Mutation: Duplication
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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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 2018-02-22 19:08:00 (Show full history)

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