IthaID: 3821

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --196 HGVS Name: NC_000016.10:g.35880_(232158_243266)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in a Hb Bart’s hydrops fetalis caused by --SEA deletion [IthaID:309] and the de novo α-globin gene deletion (--196) presented with severe anaemia. The deletion contained 10 genes, including the entire a-globin gene cluster (HBZ, HBM, HBA2, HBA1, and HBQ) and its regulatory region. The 5’ breakpoint is localised upstream of the POLR3K gene, and the 3’ breakpoint is localised downstream of the LUC7L gene.

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: 196 kb
Deletion involves: HS40, 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 Y, Xiong Y, Liu C, Lu J, Wang J, Qin D, Liu L, Wu J, Zhao X, Fang L, Du L, Yin A, Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by - and large novel α-globin gene cluster deletions., J Int Med Res, 49(2), 300060521993642, 2021 PubMed
Created on 2021-07-16 09:51:11, Last reviewed on 2021-07-16 09:52:01 (Show full history)

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