IthaID: 3407

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)JS HGVS Name: NC_000016.10:g.46628_126325del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 80 kb of DNA, extending from the POLR3K gene to the downstream region of the NPRL3 gene. The deletion removes the POLR3K, SNRNP25, RHBDF1, MPG and NPRL3 genes, as well as the MCS-R1, -R2 and -R3 elements upstream of the α-globin gene cluster. The α-globin genes remain intact. The deletion is the result of Alu-mediated homologous recombination. The proband is heterozygous for the deletion with haematological characteristics similar to those manifested with the --SEA deletion (Hb: 109 g/L, MCV: 66 fL, MCH: 20.3 pg, HbF: 0.3%, and HbA2: 2.7%).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: N/A
Size: 79.698 kb
Deletion involves: HS40, NPRL3

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. Li Z, Shang X, Luo S, Zhu F, Wei X, Zhou W, Ye Y, Yan T, Cai R, Xu X, Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α-thalassemia by targeted next-generation sequencing., Mol. Genet. Genomics, 295(2), 505-514, 2020 PubMed


1Li, Li Zhiming2019-04-14First report.
Created on 2019-04-15 11:42:44, Last reviewed on 2021-03-19 12:09:59 (Show full history)

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