IthaID: 2419

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Senegalese δ(0)β(+) HGVS Name: NG_000007.3:g.(63154_63209)_(70570_70625)del7417
Hb Name: N/A Protein Info: deletion of 7417 nts from the δ gene to β gene

Also known as:

Comments: The new δβ hybrid gene is expressed at low level, very likely due to the weak δ-globin promoter.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 7.417 kb
Fusion involves: δ, β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Zertal-Zidani S, Ducrocq R, Weil-Olivier C, Elion J, Krishnamoorthy R, A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia., Blood , 98(4), 1261-3, 2001 PubMed
  2. Griffon C, Joly P, Sénéchal A, Philit F, Francina A, Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletion., Hemoglobin , 34(5), 505-8, 2010 PubMed
  3. Saller E, Moradkhani K, Dutly F, Vinatier I, Préhu C, Frischknecht H, Goossens M, Comparison of two known chromosomal rearrangements in the δβ-globin complex with identical DNA breakpoints but causing different Hb A(2) levels., Hemoglobin , 36(2), 177-82, 2012 PubMed
Created on 2014-05-29 13:15:09, Last reviewed on 2014-06-03 15:52:09 (Show full history)

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