The thalassaemia syndromes

Abstract

The thalassaemia syndromes, endemic in the Mediterranean area, the Middle East, the Indian subcontinent, the Far East and in tropical Africa, are the most common hereditary disorders in humans, and millions of people are affected by diseases. Due to a widespread population flow between continents in recent past centuries, the thalassaemias are now occurring with relatively high frequency in many non‐endemic areas. In the Nordic countries, homozygous thalassaemia is still relatively rare, and most health‐care personnel are not familiar with these diseases. This article focuses on two important issues, namely the biological and the clinical aspects of thalassaemia.

• Thalassaemias
• genotype–phenotype relationships
• pathophysiology
• treatment