IthaID: 3078

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 113 +CC HGVS Name: HBA2:c.342_345insCC
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The mutation causes a frameshift that results in a premature stop codon at amino acid 134. Sequencing results revealed a CC insertion within a repeat of four cytosines. Patient presented with severe microcytosis and hypochromia.

External Links

No available links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34376
Size: 1 bp
Located at: α2
Specific Location: Exon 3


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Greek
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Saller E, Dutly F, Frischknecht H, Two novel α2 gene mutations causing altered amino acid sequences produce a mild (Hb Kinshasa, HBA2: c.428A > T) and severe (HBA2: c.342-345insCC) α-thalassemia phenotype., Hemoglobin , 39(2), 144-6, 2015 PubMed
Created on 2016-09-09 10:52:34, Last reviewed on 2017-01-24 12:58:20 (Show full history)

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