IthaID: 3822


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --227 HGVS Name: NC_000016.10:g.35880_(262740_268502)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in a pregnant woman and her fetus. The deletion contains 11 genes, including the entire a-globin gene cluster (HBZ, HBM, HBA2, HBA1, and HBQ) and its regulatory region. The 5’ breakpoint includes the POLR3K gene while the 3’ breakpoint includes the FAM234A gene.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 227 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

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
Created on 2021-07-16 09:54:00, Last reviewed on (Show full history)

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