IthaID: 3570



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 1.78Mb εγδβ(0) del HGVS Name: NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del
Hb Name: N/A Protein Info: N/A

Also known as: Bedouin

Comments: The deletion was reported in a Bedouin family with 8 members having εγδβ thassaemia. The propositus presented severe neonatal hemolytic anaemia and received several blood transfusions in the first months of life. The deletion was identified by MLPA analysis of the b-globin cluster (SALSA MLPA® Probemix P102-B1 HBB kit) and also by CGH-array. Length of the deletion is estimated approximately to 1.78 Mb encompassing the entire β-globin gene cluster and the control LCR region. The large deletion extends ~880 kb upstream and ~890 kb downstream to the cluster and involved more than 100 other genes. The 5’ breakpoint is localised, between the positions 4302665 and 4322227. The 3’ breakpoint is localized between the positions 6099443 and 6100105 (coordinates: GRCh38.p13, NC_000011.10). As the breakpoints are not clearly defined the deletion size is just an approximation.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 1797.44 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Deletion
Ethnic Origin: Bedouin
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Shalev H, Landau D, Pissard S, Krasnov T, Kapelushnik J, Gilad O, Broides A, Dgany O, Tamary H, A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia., Eur. J. Haematol., 90(2), 127-33, 2013 PubMed
Created on 2020-02-06 14:56:13, Last reviewed on 2020-03-16 11:30:59 (Show full history)

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