IthaID: 3577


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 59 Kb deletion HGVS Name: NC_000011.10:g.5236469_5295261del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion was reported in a mixed European descent neonate presented with neonatal anaemia, thrombocytopenia and cutaneous extramedullary hematopoiesis. The propositus required multiple RBC and platelet transfusions in the first months of life. SNP microarray analysis identified a 59 kb deletion, including 3 genes in the β-globin cluster, the HBE, HBG1 and HBG2 genes, as well as the β-globin LCR, causing εγδβ thassaemia. The 5’ breakpoint is localised at position 5236469 and the 3’ breakpoint is localized at position 5295261 (coordinates: GRCh38.p13, NC_000011.10).

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 2355
Size: 58.792 kb
Deletion involves: βLCR, ε, ,

Other details

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

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
Created on 2020-03-17 10:27:01, Last reviewed on 2020-03-17 10:53:06 (Show full history)

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