IthaID: 195

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 93/94 (+TG) HGVS Name: HBB:c.282_283dupTG
Hb Name: Hb Agnana Protein Info: β 94(+TG); modified C-terminal sequence

Context nucleotide sequence:

Also known as:

Comments: Heterozygous individual with a thalassemia intermedia-like phenotype born from normal parents, requiring regular transfusions. Large inclusion bodies detected.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71006
Size: 2 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: S. Italian
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ristaldi MS, Pirastu M, Murru S, Casula L, Loudianos G, Cao A, Sciarratta GV, Agosti S, Parodi MI, Leone D, A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype., Blood, 75(6), 1378-9, 1990 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2023-08-09 10:17:36 (Show full history)

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