Effect of alpha-gene numbers on the expression of beta-thalassemia intermedia, beta-thalassemia and (delta beta)(0)-thalassemia traits
HUMAN HEREDITY, cilt.48, sa.3, ss.121-125, 1998 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 48 Sayı: 3
- Basım Tarihi: 1998
- Doi Numarası: 10.1159/000022792
- Dergi Adı: HUMAN HEREDITY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.121-125
- Anahtar Kelimeler: alpha-thalassemia, alpha-gene triplication, beta-thalassemia trait, delta beta-thalassemia trait, beta-thalassemia intermedia, GLOBIN GENE, MOLECULAR-BASIS, LOCUS, HOMOZYGOSITY, FAMILY, TURKEY
- Hacettepe Üniversitesi Adresli: Evet
Özet
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 (-alpha(3.7)/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.