IthaID: 2419



Names and Sequences

Functionality: Globin gene causative mutation
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

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

External Links

Location

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

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:β+
δ0
δβ fusion
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Fusion
Ethnic Origin: Senegalese, Mediterranean
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

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. 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)

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.

Please publish modules in offcanvas position.