Article
A family with multiple mutations and sequence variations in the alpha- and beta-globin gene clusters.
Clinical chemistry and laboratory medicine - 1 Jan 2008
de Vooght Karen M K, van Wijk Richard, Rijksen Gert, van Solinge Wouter W
Abstract excerpt
BACKGROUND: Usually, laboratory diagnostics of hereditary hemoglobin disorders is fairly straightforward. Sometimes, however, correct diagnosis can be difficult. In this study, we describe a family with multiple mutations and sequence variations in the alpha- and beta-globin gene clusters. METHODS: Hemocytometry results were obtained using an automated cell counter. Hemoglobin variant analysis was performed by...
Topics
- Base Sequence
- Chromatography, High Pressure Liquid
- DNA Primers
- Female
- Globins
- Humans
- Male
- Multigene Family
- Mutation
- Pedigree
- Polymerase Chain Reaction