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

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: 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

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.