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

Gumruk, FATMA; Mergen, HATİCE; Oner, R; Ozcebe, O; Sayinalp, NİLGÜN; Oner, C; Gurgey, A; Altay, C

doi:10.3109/03630260009002270

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, sa.1, ss.23-9, 2000 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 24 Sayı: 1
Basım Tarihi: 2000
Doi Numarası: 10.3109/03630260009002270
Dergi Adı: Hemoglobin
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.23-9
Hacettepe Üniversitesi Adresli: Evet

Özet

We report on two siblings with β+-thalassemia intermedia. Molecular studies of the β-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 β+- thalassemia associated with moderate Hb F elevation (26-38%) and highly elevated Hb A2 (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 β+- or β0-thalassemia mutations, are given for comparison.