Article
The rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] in combination with an alpha gene triplication found in a Dutch patient during her first pregnancy examination.
Hemoglobin - 1 Jan 2007
Giordano Piero C, Addo-Daaku Akosua, Sander Margaretha J, van Rooijen-Nijdam Irene, van Delft Peter, Harteveld Cornelis L, Kok Peter J M J
Abstract excerpt
We report a semi dominant beta-thalassemia (thal) phenotype caused by the rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] mutation in combination with an alpha gene triplication. This combination of two rare mutations was observed during hemoglobinopathy carrier diagnostics in a 26-year-old Dutch female at 9 weeks gestation, at the first pregnancy examination in the midwives practice. The partner was...
Topics
- Adult
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- DNA
- Female
- Hemoglobins, Abnormal
- Humans
- Leucine
- Mutation
- Polymorphism, Single Nucleotide