IthaID: 3578

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 2.2 Mb deletion HGVS Name: NC_000011.10:g.4052720_6253287del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The de novo deletion was reported in a mixed European descent neonate presented with microcytic hemolytic anemia, hyperbilirubinemia, hypoglycemia and hypothermia. The propositus required two blood transfusions in the first two months of life. SNP microarray analysis identified a 2.2 Mb deletion containing 77 genes, including the entire β-globin gene cluster as well as the β-globin LCR, causing εγδβ thassaemia. The 5’ breakpoint is localised, at position 4052720 and the 3’ breakpoint is localized at position 6253287 (coordinates: GRCh38.p13, NC_000011.10).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 2200.57 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: European Caucasian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Repnikova E, Roberts J, Mc Dermott S, Farooqi MS, Iqbal NT, Silvey M, Nolen J, Taboada E, Li W, Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases., Pathol. Res. Pract., 215(10), 152578, 2019 PubMed
Created on 2020-03-17 11:08:02, Last reviewed on (Show full history)

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