IthaID: 3886



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)102kb deletion HGVS Name: NC_000016.10:g.48994_151454del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in a 33-year-old female presented with Hb 10.9 g/dL, RBC 5.4×1012/L, MCV 63.9fL, MCH 20.2 pg and MCHC 31.6 g/L. Third-generation sequencing show a 102.459 kb deletion in the α-globin chain which affects the major regulatory element HS-40. The haematological characteristics of the deletion were very similar to the SEA deletion.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 102.459 kb
Deletion involves: HS40, NPRL3

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Li, Youqiong2022-01-05First report.
Created on 2022-01-07 10:35:40, Last reviewed on (Show full history)

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