Article
A C----G mutation at nt position 6 3' to the terminating codon may be the cause of a silent beta-thalassemia.
International journal of hematology - 1 Aug 1991
Jankovic L, Dimovski A J, Kollia P, Karageorga M, Loukopoulos D, Huisman T H
Abstract excerpt
We describe the hematological and clinical data for a young Greek patient with beta-thalassemia intermedia and for several members of her family. The patient had inherited the common IVS-I-1 (G----A) mutation from her mother, while the second beta-globin gene had a C----G mutation at position 6 3' to the terminating codon (term. + 6). Her father and three additional relatives with a heterozygosity for this newly...
Topics
- Base Sequence
- Blood Transfusion
- Codon
- Combined Modality Therapy
- DNA Mutational Analysis
- Female
- Gene Expression Regulation
- Genotype
- Globins
- Hemoglobin A2
- Humans