IthaID: 2120

Names and Sequences

Functionality: Disease modifying mutation Pathogenicity: N/A
Common Name: -495 (A>T) HGVS Name: NG_023030.1:g.4613A>T

Context nucleotide sequence:

Also known as: rs2071746

Comments: HMOX1-413 A>T associated with less frequent vaso-occlusive crisis (VOC)/lifetime, less VOC in the last year, less incidence of stroke, less frequency of hospitalization, and responded more frequently to hydroxyurea with statistically significant differences among Egyptian sickle cell disease (SCD) patients. Also, the T allele associated with higher levels of HbF in SCD patients from Brazil, Iran and India, but not in an Egyptian SCD cohort.

External Links


Allele Phenotype (Cis):N/A
Allele Phenotype (Trans):N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]
Stroke [HP:0001297] [OMIM:601367]
Vaso-occlusive crisis


Chromosome: 22
Locus: NG_023030.1
Locus Location: 4613
Size: 1 bp
Located at: HMOX1
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Brazilian, Iranian, Egyptian, Indian
Molecular mechanism: N/A
Inheritance: Quantitative trait
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Gil GP, Ananina G, Oliveira MB, Costa FF, Silva MJ, Santos MN, Bezerra MA, Hatzlhofer BL, Araujo AS, Melo MB, Polymorphism in the HMOX1 gene is associated with high levels of fetal hemoglobin in Brazilian patients with sickle cell anemia., Hemoglobin , 37(4), 315-24, 2013 PubMed
  2. Bakr S, Khorshied M, Talha N, Jaffer KY, Soliman N, Eid K, El-Ghamrawy M, Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia., Ann. Hematol., 2019 PubMed
  3. Hariharan P, Chavan V, Nadkarni A, Significance of heme oxygenase-1(HMOX1) gene on fetal hemoglobin induction in sickle cell anemia patients., Sci Rep, 10(1), 18506, 2020 PubMed
Created on 2013-09-19 13:19:31, Last reviewed on 2020-11-12 08:48:01 (Show full history)

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