IthaID: 280



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: IVS I [3' end] (-25 bp) HGVS Name: HBB:c.93-21_96del
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CACTGACTCTCTCTGCCTAT [TGGTCTATTTTCCCACCCTTAGGCT/-] GCTGGTGGTCTACCCTTGGA (Strand: -)

Also known as: 25 bp deletion

Comments: An updated case was reported in a 20-year-old female with severe microcytosis and hypochromia and increased Hb A2 level.

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70795
Size: 25 bp
Located at: β
Specific Location: Intron 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Orkin SH, Sexton JP, Goff SC, Kazazian HH, Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia., The Journal of biological chemistry, 258(12), 7249-51, 1983 PubMed

Microattributions

A/AContributor(s)DateComments
1Feleki, Xenia2022-09-23Report of an update.
Created on 2010-06-16 16:13:15, Last reviewed on 2022-09-23 10:46:49 (Show full history)

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