The importance of the rare phenotype: Haemoglobin and its disorders
The inherited disorders of haemoglobin are the commonest monogenic diseases. Extensive studies of their molecular pathology, as well as leading to a better understanding of their remarkable clinical diversity, has provided invaluable information about the functions of haemoglobin and the regulation of its synthesis. Recent work in this field has continued to highlight the value of the study of rare phenotypes at the molecular level as a basis for a better understanding of the mechanisms of gene action. © 2008 The Biochemical Society.