The clinical explorations which have resulted from studies of mutant hemoglobin have allowed definition of a variety of syndromes whose manifestations require explanation in terms of the effects of molecular distortion on physiological processes. The discovery of various hemoglobinopathies has demonstrated that specific molecular defects may express themselves in various pathophysiological manifestations. More detailed pathophysiological studies of patients with hemoglobinopathies should be performed to gain a better understanding of the expression of molecular disease
