Article
A novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders.
Annals of hematology - 1 Jan 2020
Jomoui Wittaya, Tepakhan Wanicha, Yamsri Supawadee, Srivorakun Hataichanok, Fucharoen Goonnapa, Fucharoen Supan
Abstract excerpt
Hemoglobin (Hb) F has a modulatory effect on the clinical phenotype of β-thalassemia disease. High expression of Hb F in Hb E-related disorders has been noted, but the mechanism is not well understood. We have examined the association of a novel SNP rs11759328 on ARHGAP 18 gene and other known modulators with a variability of Hb F in Hb E-related disorders. Genotyping of SNP rs11759328 (G/A) was performed based...
Topics
- Fetal Hemoglobin
- GTPase-Activating Proteins
- Gene Expression Regulation
- Hemoglobin E
- Hemoglobinuria
- Humans
- Kruppel-Like Transcription Factors
- Mutation
- Polymorphism, Single Nucleotide
- Thailand