Article
A rare mutation [IVS-I-130 (G-A)] in a Turkish beta-thalassemia major patient.
American journal of hematology - 1 Apr 2000
Tadmouri G O, Bilenoğlu O, Kantarci S, Kayserili H, Perrin P, Başak A N
Abstract excerpt
Here we describe the identification of the rare beta-thalassemia mutation IVS-I-130 (G-A) for the first time in Turkey. The hematological evaluation of the patient showed classical signs of beta-thalassemia major requiring regular blood transfusions every 30-35 days. DNA analysis was carried out using reverse dot-blot hybridization and restriction endonuclease digestion, as well as genomic sequencing. The patient...
Topics
- Albania
- Alleles
- Child, Preschool
- Family Health
- Female
- Haplotypes
- Humans
- Point Mutation
- Turkey
- beta-Thalassemia