IthaID: 4073

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)FJ HGVS Name: NC_000016.10:g.39268_130758del
Hb Name: N/A Protein Info: N/A

Also known as: --FJ

Comments: The deletion is about 91.5-kb in length and removes the HS40 regulatory element of the α-globin gene cluster. The proband carried this deletion in the heterozygous state and presented with mild microcytic hypochromic anemia.

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: N/A
Size: 91.5 kb
Deletion involves: HS40

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. Xu L, Chen M, Zheng J, Zhang S, Zhang M, Chen L, He Q, Guo D, Lin N, Huang H, Identification of a novel 91.5 kb-deletion (αα) in the α-globin gene cluster using single-molecule real-time (SMRT) sequencing., J Matern Fetal Neonatal Med, 36(2), 2254890, 2023 PubMed
Created on 2023-10-02 16:54:26, Last reviewed on 2024-02-12 12:48:01 (Show full history)

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