IthaID: 4019

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 27.2 kb deletion (--27.2) HGVS Name: NC_00016.10:g.154539_181778delinsTAACA
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: A 27.2-kb deletion and a 5-bp insertion (TAACA) in the α-globin gene cluster identified by MLPA. Breakpoints were predicted by targeted NGS and characterized by Sanger sequencing. The deletion starts downstream of HBZ between chr16:204470-204620 (upstream) and ends downstream of HBQ1 between chr16:231770-231920 (downstream) (GRCh37/hg19). The deletion covers the HBZP1, HBM, HBAP1, HBA1, HBA2, and HBQ1 genes.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 15402
Size: 27.24 kb
Deletion involves: ζ, α2, α1, HBM

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wang G, Zou S, Li J, Wang X, Wu H, Tao Z, Zhang Q, Xu X, Zhou Y, The diagnosis and molecular analysis of a novel 27.2 kb deletion causing α-thalassemia., Clin Biochem, 116(0), 20-23, 2023 PubMed
Created on 2023-03-22 16:10:07, Last reviewed on 2024-02-08 14:41:04 (Show full history)

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