IthaID: 884

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 25-26 GGTGAG>GAG (-3 bp) HGVS Name: HBB:c.77_79delGTG
Hb Name: Hb Higashitochigi Protein Info: β 24(B6) Gly->0 OR β 25(B7) Gly->0

Context nucleotide sequence:

Also known as: Hb HT

Comments: Found in a young Japanese boy presenting with cyanosis and mild hemolysis.


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70671
Size: 3 bp
Located at: β
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Methemoglobinaemia
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Fujisawa K, Yamashiro Y, Hattori Y, Ohha Y, Kajita T, Kageyama S, Arita J, Hb Higashitochigi (Hb Ht) [ beta 24(B6) or beta 25(B7) glycine deleted]: a new unstable variant expressing cyanosis., Hemoglobin, 17(5), 467-73, 1993 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-11-11 14:13:17 (Show full history)

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