Hemoglobinopathies are mostly autosomal recessive disorders and heterozygotes are symptom-free but present various hematological characteristics which are used for their identification in carrier screening programs. The presentation will highlight some unexpected molecular mechanisms showing interesting genotype-phenotype correlations, either ameliorating or deteriorating the clinical presentation of hemoglobinopathy.
Learning Objectives - after participation of this activity, participants will be able to:
1. Recognize distinctive features of alpha- and beta-thalassemia for carrier diagnostics.
2. Know about ameliorating and deteriorating factors in determining the disease phenotype.
3. Know how carrier detection may contribute to prevention of these severe inherited diseases.