IthaID: 2190



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 83 (+65 bp duplication) HGVS Name: HBB:c.187_251dup
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The 65bp duplication found in 30-year old man combined with heterozygous -α4.2 thalassemia, αααanti3.7 triplication and the common δ globin variant HbA2’, with clinical presentation of a β0- thalassemia carrier. The high reticulocyte count (6.3%) and minimal splenomegaly are the only indications that this duplication could even lead towards a more severe phenotype. The duplication introduces a stop codon twenty-six amino acids further down the new reading frame leading to a truncated β chain of only 106 residues.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70975
Size: 65 bp
Located at: β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Duplication
Ethnic Origin: Ghanaian
Inheritance: Recessive
DNA Sequence 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

  1. Frischknecht H, Dutly F, A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia., Haematologica , 92(3), 423-4, 2007 PubMed
Created on 2013-09-30 17:07:53, Last reviewed on 2020-07-09 13:56:15 (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.