IthaID: 1564



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -37 A>T HGVS Name: HBG2:c.-90A>T
Hb Name: N/A Protein Info: N/A

Also known as: Belgian non-deletional HPFH

Comments: Association with a moderately increased HbF. Associated with the rare codon 91 (+T) δ0-thalassemia.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 42798
Size: 1 bp
Located at:
Specific Location: Promoter 0

Phenotype

Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: Dutch, Belgians
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Bouva MJ, Harteveld CL, Bakker-Verweij G, van Delft P, Giordano PC, Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia., Hemoglobin , 30(3), 371-7, 2006 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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