Hemoglobinopathy

disease resulting from a defective synthesis of hemoglobin, either in terms of quantity or of quality

Description
Hemoglobinopathies can be classified broadly into two different types, depending on whether the the structure or the abundance of the protein components are affected. For instance, a specific structural defect in the β-chain affects the plasticity and shape of red blood cells and is responsible for sickle cell disease, a disease with particular prevalence in Africa and the Mediterranean region. The thalassemias, on the other hand, are inherited defects in the abundance of one or more of the globin chains. For instance, the &alpha;-thalassemias show an unnaturally low amount of the &alpha;-globin chain and are most prevalent in those of Asian descent, while the clinically severe β-thalassemias, most prevalent in countries and immigrant groups from countries bordering the Mediterranean, show a low abundance of the β-chain instead