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Yale Researchers Crack the Code of a Rare, Inherited Anemia
Yale pediatrician and geneticist Patrick Gallagher, M.D., studies hereditary spherocytosis (HS), an inherited disease associated with hemolytic anemia, when red blood cells are destroyed faster than they are produced due to abnormal membranes. A novel mutation in the gene that encodes alpha-spectrin, a protein essential for normal red blood cell membranes, is responsible for many cases of recessive hereditary spherocytosis (rHS), the most severe form of the disease, reports Gallagher’s team