Article
Hb Groene Hart: a new Pro-->Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype.
Hemoglobin - 1 Aug 2002
Harteveld Cornelis L, van Delft Peter, Plug Rob, Versteegh Florens G A, Hagen Balt, van Rooijen Irene, Kok Peter J M J, Wajcman Henri, Kister Jean, Giordano Piero C
Abstract excerpt
Alpha-Thalassemia (thal) is generally considered to be an expression defect caused mostly by deletions silencing one or more alpha-globin genes. Although nondeletional alpha-thalassemia is considered rare, in our laboratory we frequently observe alpha-thal phenotypes induced by point mutations. We report a new point mutation generating an abnormal hemoglobin (Hb) associated with a mild alpha-thal phenotype in two...
Topics
- Adult
- Amino Acid Substitution
- Child, Preschool
- DNA Mutational Analysis
- Family Health
- Female
- Globins
- Hemoglobins, Abnormal
- Humans
- Male
- Netherlands
- Phenotype
- Point Mutation