IthaID: 3214

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 44.6 kb deletion HGVS Name: NC_000016.10:g.144215_188841del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans 44.6 kb on the α-globin gene cluster removing both of the duplicated α-globin genes, while the upstream regulatory element HS-40 is left intact. Breakpoints were localized to positions 193637-199336 at the 5' end, and positions 237170-256305 at the 3’ end (hg19) using MLPA. Deletion breakpoints were determined by array comparative genomic hybridization.

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: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 5078
Size: 44.627 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

Publications / Origin

  1. Wang Y, Liu C, Zhang L, Du L, Zhou W, Huang S, Liu L, Yin A, Identification of a novel 44.6-kb deletion causing α(0) -thalassemia in southern China., Int J Lab Hematol , 2017
Created on 2017-03-28 16:19:33, Last reviewed on 2023-02-07 11:58:11 (Show full history)

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