IthaID: 257

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 128/129 (-4, +5, -11 bp) >153aa HGVS Name: HBB:c.[385_388delinsCCACA;397_407delAAAGTGGTGGC]
Hb Name: N/A Protein Info: β 128-129 (-GCTG); modified C-terminal sequence AND beta 132 - 135 (-AAAGTGGTGGC); modified C-terminal sequence AND beta 128(+CCACA); modified C-terminal sequence

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β0
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71959
Size: 11 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Irish
Molecular mechanism: Altered α1β1 interface
Inheritance: Dominant
DNA Sequence Determined: No

In silico pathogenicity prediction

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

  1. Weatherall DJ, Clegg JB, Knox-Macaulay HH, Bunch C, Hopkins CR, Temperley IJ, A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia., Br. J. Haematol. , 24(6), 681-702, 1973 PubMed
  2. Thein SL, Winichagoon P, Hesketh C, Best S, Fucharoen S, Wasi P, Weatherall DJ, The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis., American journal of human genetics, 47(3), 369-75, 1990 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2015-12-07 12:17:48 (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.