IthaID: 3148

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-3 +21nt HGVS Name: HBA1:c.302_303insGACCCGGTCAACTTCAAGGTG
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The heterozygous form of the insertion produces small amount of unstable haemoglobin (Hb) with no specific effect on Hb level and RBC indices, but double heterozygote with other trait presenting mutations can increase unstable Hb production in a manner that presents with severe anemia.

External Links

No available links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 38000
Size: 21 bp
Located at: α1
Specific Location: Intron 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Iranian
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Zekavat OR, Dehghani SJ, Imanifard J, Dehbozorgian J, Zareifar S, Haghpanah S, Introduction of novel α1-hemoglobin gene mutation with transfusion-dependent phenotype., Hematology , 2016 PubMed
Created on 2017-01-24 11:55:48, Last reviewed on 2017-01-24 11:57:45 (Show full history)

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