beta-thalassemia intermedia associated with homozygosity for the -87 (C -> T) mutation in a Turkish family


Gumruk F., Mergen H., Oner R., Ozcebe O., Sayinalp N., Oner C., ...Daha Fazla

HEMOGLOBIN, cilt.24, ss.23-29, 2000 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 24 Konu: 1
  • Basım Tarihi: 2000
  • Doi Numarası: 10.3109/03630260009002270
  • Dergi Adı: HEMOGLOBIN
  • Sayfa Sayıları: ss.23-29

Özet

We report on two siblings with beta(+)-thalassemia intermedia. Molecular studies of the beta-globin gene indicated that the patients are homozygous for the -87 (C-->T) mutation. This genotype has not been previously described. Homozygosity for the -87 (C-->T) mutation produces a mild form of beta(+)-thalassemia associated with moderate Hb F elevation (26-38%) and highly elevated Hb A(2) (10-8.6%) levels, respectively. Hematological parameters of homozygous -87 (C-->G) and -87 (C-->A) mutations, and compound heterozygous patients with either C-->T, C-->G, or C-->A at -87 and one of the severe beta(+)- or beta(0)-thalassemia mutations, are given for comparison.