IthaID: 38


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CAP +22 (G>A) HGVS Name: HBB:c.-29G>A
Hb Name: N/A Protein Info: β nt 22 G>A

Context nucleotide sequence:
GCTTACATTTGCTTCTGACACAACT [A/G] TGTTCACTAGCAACCTCAAACAGAC (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70566
Size: 1 bp
Located at: β
Specific Location: 5'UTR

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β++
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: 5'UTR (Transcription)
Ethnic Origin: Mediterranean, Bulgarian,Turkish
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Frequencies

Publications / Origin

  1. Oner R, Agarwal S, Dimovski AJ, Efremov GD, Petkov GH, Altay C, Gurgey A, Huisman TH, The G----A mutation at position +22 3' to the Cap site of the beta-globin gene as a possible cause for a beta-thalassemia., Hemoglobin, 15(1), 67-76, 1991
  2. Cai SP, Eng B, Francombe WH, Olivieri NF, Kendall AG, Waye JS, Chui DH, Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene., Blood, 79(5), 1342-6, 1992
  3. Akar E, Ozdemir S, Hakki Timur I, Akar N, First observation of homozygous hemoglobin hamadan (B 56 (D7) GLY-ARG) and beta thalassemia (-29 G>A)- hemoglobin Hamadan combination in a Turkish family., American journal of hematology, 74(4), 280-2, 2003
Created on 2010-06-16 16:13:14, Last reviewed on 2017-06-28 12:21:09 (Show full history)

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