IthaID: 3390


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: βδβ hybrid HGVS Name: N/A
Hb Name: Hb Palencia Protein Info: N/A

Also known as:

Comments: A β-like globin chain composed of an internal δ-globin fragment and β-globin N-terminal and C-terminal sequences. The βδβ hybrid gene comprises both the promoter region and the IVS-II of the HBB gene, and its synthesis is like that of β-globin. The δ sequence bears mutations that could confer it with anti-sickling properties. It is most likely the result of a cross-linking between a Lepore-type gene and an HBB gene. Detected during a routine health check in an otherwise asymptomatic individual.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: Spanish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Nieto JM, González FA, Alonso JM, Golvano E, Guerrero L, Albarrán B, Villegas A, Martínez RB, Ropero P, Hb Palencia: a novel δβδ-type two-way fusion variant with β-globin-like expression levels., J. Clin. Pathol., 72(1), 46-51, 2019
Created on 2019-04-08 14:40:58, Last reviewed on 2019-05-02 16:54:13 (Show full history)

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