Article
Hematologic phenotype of the mutations IVS1-n6 (T-->C), IVS1-n110 (G-->A), and CD39 (C-->T) in carriers of beta-thalassemia in Greece.
Pediatric hematology and oncology - 1 Jan 2000
Stefanis L, Kanavakis E, Traeger-Synodinos J, Tzetis M, Metaxotou-Mavromati A, Kattamis C
Abstract excerpt
The hematologic phenotype was characterized in heterozygotes for three of the most common beta-thalassemia mutations in the Greek population. The study included 17 carriers of beta++ IVS1-n6 (T-->C), 21 carriers of beta+ IVS1-n110 (G-->A), and 17 carriers of beta 0 CD39 (C-->T). The 55 beta-thalassemia heterozygotes were selected from among parents of patients on regular transfusion regimens, and the...
Topics
- Alleles
- Erythrocyte Indices
- Female
- Fetal Hemoglobin
- Globins
- Greece
- Hematocrit
- Hemoglobin A2
- Heterozygote
- Humans
- Male
- Phenotype