IthaID: 178

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 72-73 (-AGTGA, +T) HGVS Name: HBB: c.217_221delAGTGAinsT
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70941
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: British
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Waye JS, Eng B, Patterson M, Chui DH, Fernandes BJ, Novel beta 0-thalassemia mutation in a Canadian woman of British descent (codons 72/73, -AGTGA, +T)., Hemoglobin, 21(4), 385-7, 1997
Created on 2010-06-16 16:13:15, Last reviewed on 2018-04-25 17:02:39 (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.