IthaID: 1324



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -68 (C>T) HGVS Name: HBD:c.-118C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCTCCCTGCTCCAGTGAGCAGGTTG [A/G] TTTAAGATAAGCAGGGTTTCATTAG (Strand: +)

Comments: SNP associated with δ-thalassaemia. SNP was found in sickle cell anaemia patients with the Saudi-Indian (SI) or Arab-Indian (AI) haplotype and high HbF levels. There is no evidence that this SNP regulates HBG expression.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63065
Size: 1 bp
Located at: δ
Specific Location: Promoter

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:δ+
Associated Phenotypes: Hb levels [HP:0011902]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Dutch
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Frequencies

Publications / Origin

  1. Bouva MJ, Harteveld CL, van Delft P, Giordano PC, Known and new delta globin gene mutations and their diagnostic significance., Haematologica, 91(1), 129-32, 2006 PubMed
  2. Phylipsen M, Gallivan MV, Arkesteijn SG, Harteveld CL, Giordano PC, Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics., Int J Lab Hematol , 33(1), 85-91, 2011 PubMed
  3. Habara AH, Shaikho EM, Steinberg MH, Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents., Am. J. Hematol. , 2017 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2017-09-22 20:20:39 (Show full history)

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