Article
Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia.
Blood - 1 Jun 1994
Fortina P, Parrella T, Sartore M, Gottardi E, Gabutti V, Delgrosso K, Mansfield E, Rappaport E, Schwartz E, Camaschella C
Abstract excerpt
The clinical diversity of thalassemia depends on interaction of diverse genetic defects. We have characterized a severe form of alpha thalassemia caused by coinheritance of a rare alpha-globin gene deletion and a nondeletional defect in a southern Italian family. The proband, a 7-year-old girl, e...
Topics
- Base Sequence
- Child
- Female
- Gene Deletion
- Globins
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Poly A
- Polymerase Chain Reaction
- Recombination, Genetic
- Restriction Mapping
- alpha-Thalassemia