IthaID: 3606



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 177 Kb deletion HGVS Name: NC_000011.10:g.5241050_5418009del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans 177 kb on the beta-globin gene cluster, removing the globin genes HBG1, HBG2 and HBE, and the βLCR enhancer. It extends into the proximally situated olfactory receptor gene cluster, deleting genes OR51B4, OR51B2, OR51B6, OR51M1, OR51J1 and OR51B5. The (εγ)δβ0-thal deletion is found in a heterozygous state in a father and his daughter of Swiss origin. The father had microcytic hypochromic anaemia (Hb 14.7 g/dL, HbA2 2.2 %, MCV 73.2 fL, MCH 24.8 pg). The daughter was also carrier of the Hb A2-Gebenstorf variant [ithaID=3406], presenting with a beta-thalassaemia minor phenotype (Hb 10.6 g/dL, MCV 61.0 fL, MCH 18.2 pg, HbA2 0%, HbF 0.7%). Deletion breakpoints are reported as followed: arr[GRCh37] 11p15.4(5262280_5439239)x1

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: N/A
Size: 176.959 kb
Deletion involves: βLCR, ε, , , pseudo β, OR51B5, OR51B6, OR51M1, OR51B2

Other details

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

Sequence Viewer

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Publications / Origin

  1. Saller E, Knijnenburg J, Harteveld CL, Dutly F, A Woman with Missing Hb A Due to a Novel (εγ)δβ-Thalassemia and a Novel δ-Globin Variant Hb A-Gebenstorf (: c.209G>A)., Hemoglobin, 44(3), 214-217, 2020 PubMed
Created on 2020-08-06 15:51:31, Last reviewed on 2021-07-27 14:52:04 (Show full history)

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