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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


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

In silico pathogenicity prediction

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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