title: GENETIC FACTORS INFLUENCING HEMOGLOBIN F LEVEL IN β-THALASSEMIA/HB E DISEASE.
abstract: Genetic factors influencing Hb F content in adult red blood cells include β-thalassemia genotypes, co-inheritance of α-thalassemia traits and single nucleotide polymorphisms (SNPs). Genotyping of α- and β-thalassemia and five SNPs in β-globin gene cluster previously identified in genome-wide association studies as being markers of elevated Hb F in β-thalassemia were performed in 81 subjects diagnosed with β-thalassemia/Hb E. Hb F levels are higher (0.9-7.1 g/dl) in subjects (n = 57) with the severe compared to mild β-thalassemia (0.8-2.5 g/ dl) (n = 4) genotypes, and are similarly low (0.7-3.5 g/dl) in those (n = 15) with α-thalassemia co-inheritance. Hb F levels in non-thalassemia controls (n = 150) range from 0 to 0.15 g/dl. The presence of homozygous minor alleles of the 5 SNPs are significant indicators of β-thalassemia/Hb E individuals with high Hb F (> 4 g/dl), independent of their thalassemia genotypes. Given that re-activation of γ-globin genes leads to amelioration of β-thalassemia severity, understanding how genetic factors up-regulate Hb F production may lead to possible therapeutic interventions, genetically or pharmacologically, of this debilitating disease in the not too distant future.
authors.forename: Waraporn
authors.initials: W
authors.lastname: Ruangrai
authors.forename: Sumalee
authors.initials: S
authors.lastname: Jindadamrongwech
mesh_terms: D000328:Adult; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism*; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D017086:beta-Thalassemia / Q000097:blood* / Q000235:genetics
chemical_list: D005319:Fetal Hemoglobin