Clinical phenotypes and molecular diagnosis in a hitherto interaction of Hb E/beta thalassemia syndrome (beta(E)/beta(-31), (A -->G)).

Abstract excerpt

Molecular identification of affected alleles in the index family with rare mutation(s) and/or interaction(s) is an important prerequisite toward a proper genetic counseling. In Thailand, where more than 30% of the populations are heterozygotes for either alpha or beta thalassemia mutation(s). More than 60 different thalassemia syndromes resulting from the interactions of these heterogeneous alleles have been...

Topics

• Beta-Globulins
• Child, Preschool
• Female
• Hemoglobins
• Heterozygote
• Humans
• Nucleic Acid Hybridization
• Phenotype
• beta-Thalassemia