title: Effect of alpha-gene numbers on the expression of beta-thalassemia intermedia, beta-thalassemia and (delta beta)0-thalassemia traits.
abstract: The effects of variations in alpha-gene numbers on phenotypical expression of beta-thalassemia are assessed in 11 subjects of 8 families. The study indicates that coexistence of alpha-thalassemia (-alpha3.7/alpha alpha) decreases the HbF in IVSI-6 homozygote and in delta beta thalassemia trait and may ameliorate the disease in beta-thalassemia compound heterozygotes associated with one mild and one severe beta-thalassemia mutation. Coexistence of alpha-gene triplication is associated with an increase in HbF value and may increase the severity of beta-trait or beta-thalassemia intermedia. The effects of alpha-gene triplication on phenotypic expression of beta-thalassemia trait may not be uniformly observed in every subject affected with a similar genotype.
authors.affiliation: School of Medicine, Department of Pediatric Hematology, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
authors.forename: C
authors.initials: C
authors.lastname: Altay
authors.forename: C
authors.initials: C
authors.lastname: Oner
authors.forename: R
authors.initials: R
authors.lastname: Oner
authors.forename: F
authors.initials: F
authors.lastname: Gümrük
authors.forename: H
authors.initials: H
authors.lastname: Mergen
authors.forename: A
authors.initials: A
authors.lastname: Gürgey
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D018628:Gene Dosage; D005786:Gene Expression Regulation; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D019655:Quantitative Trait, Heritable; D017085:alpha-Thalassemia / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*