IthaID: 3711

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)54 Kb deletion HGVS Name: NC_000016.10:g.94096_147948del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The novel deletion found in a heterozygous individual with Hb 12.8 g/dL, MCV 0.1 fL, MCH 21.4 pg and HbA2 2.4 %. Also, the deletion found in combination with the Hb Constant Spring [IthaID: 418], causing Hb H disease. The compound heterozygote patient presenting mild thalassaemia with Hb 8.5 g/dL, MCV 77 fL, MCH 23 pg, HbA2 2.0 %, Hb CS 1.1 %, HbH 2.3 %, Hb Bart’s 3.2 %. The deletion affects the major regulatory element HS-40.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 53.852 kb
Deletion involves: HS40

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To the best of our knowledge, this is unpublished data.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!


1Jiang, Fan2021-01-14First report.
Created on 2021-01-14 13:52:22, Last reviewed on 2021-04-19 11:01:52 (Show full history)

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