Effect of alpha-gene numbers on the expression of beta-thalassemia intermedia, beta-thalassemia and (delta beta)(0)-thalassemia traits

Altay C., Oner C., Oner R., Gumruk F., Mergen H., Gurgey A.

HUMAN HEREDITY, cilt.48, sa.3, ss.121-125, 1998 (SCI-Expanded) identifier identifier identifier

  • 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.