IthaID: 3849



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: ~72 kb εγδβ(0) del HGVS Name: NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in a newborn Greek female who received erythrocyte transfusion immediately after birth due to severe hemolytic anaemia. Mother and maternal grandmother of the proband had a history of unexplained neonatal anemia restricted to neonatal and early infant period, microcytic hypochromic hemolytic anemia and cholelithiasis later in life. The deletion caused severe but transient neonatal anemia and a non-transfusion-dependent chronic hemolytic anemia state later in life, resembling mild β-thalassemia intermedia. The Greek deletion is about 72 kb in length, spanning from hypersensitive site 4 (HS4) in the LCR to the 3’ end of the β-globin gene.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 9260
Size: 72.475 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

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

Sequence Viewer

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Publications / Origin

  1. Makis A, Georgiou I, Traeger-Synodinos J, Storino MR, Giuliano M, Andolfo I, Hatzimichael E, Chaliasos N, Giapros V, Izzo P, Iolascon A, Grosso M, A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family., Hemoglobin, 2019 PubMed
Created on 2021-08-30 12:38:44, Last reviewed on 2021-08-30 12:57:31 (Show full history)

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