Clínic Barcelona

Genetic Counselling and Neonatal Screening are Key Factors in the Approach to Hereditary Anemias

Hereditary anemias or major hemoglobin syndromes principally include two different entities: beta thalassemia major or Cooley’s anemia, which is prevalent in the native population; and sickle-cell anemia, which is associated with the immigrant population. The term thalassemia corresponds to a group of hereditary anemias that affect 2% of the Spanish population. Each year, approximately 300 children are born throughout the world with thalassemia syndromes. Falciform anemia is one of the most common hereditary anemias and has a higher mortality, especially in childhood. If not detected on time, mortality in children is as high as 8%; this is reduced to 1.8%, however, in patients who are diagnosed early by neonatal screening.