IthaID: 3823



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 60 kb deletion HGVS Name: NC_000011.10:g.5167971_5228123delinsA
Hb Name: N/A Protein Info: N/A

Also known as: Prachinburi β0-thalassemia deletion

Comments: Found in a 40-year old male in combination with two KLF1 polymorphisms rs2072597(A>G), rs3817621(G>C)A and XmnI polymorphism rs7482144(G>A) on the γ-globin gene. The 60 kb deletion removed only the β-globin gene whereas the δ-and γ-globin genes were present. Hemoglobin analysis by capillary electrophoresis shown elevated levels of HbA2 and HbF.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 69493
Size: 60.151 kb
Deletion involves: β

Other details

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

Sequence Viewer

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Publications / Origin

  1. Jomoui W, Tepakhan W, Characterization and identification of Prachinburi β -thalassemia: A novel-60 kb deletion in beta globin gene related to high levels of Hb F in heterozygous state., Int J Lab Hematol, 2021 PubMed
Created on 2021-07-16 12:53:47, Last reviewed on 2021-07-16 12:54:40 (Show full history)

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