Red Cell Membrane Disorder Mutations Database

Hereditary Spherocytosis (HS), Hereditary Elliptocytosis (HE), and Hereditary Pyropoikilocytosis (HPP) are inherited disorders of the erythrocyte membrane associated with hemolytic anemia [1,2]. These disorders are characterized by genetic heterogeneity [3,4] as well as clinical and laboratory heterogeneity. This database contains confirmed mutations associated with these diseases. We welcome additions and descriptions of new mutations. Information can be sent to either Dr. Patrick G. Gallagher of the Yale Center for Blood Disorders or Dr. David M. Bodine of NHGRI using the submission form.