IthaID: 3570



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: 1.78Mb εγδβ(0) del HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: Bedouin

Comments: The deletion length is estimated approximately to 1,78Mb. Using the SALSA MLPA® Probemix P102-B1 HBB kit, the 5' breakpoint is located between positions 4323895 and 4343457 while the 3' breakpoint is located between positions 6120673 and 61211335 (NCBI; NT_009237.18).

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 1780 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 2020-02-06 16:03:45 (Show full history)

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