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Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. The typical form of HUS occurs in children and is associated with diarrhea from verotoxin-producing bacteria such as Escherichia coli O157:H7. However, an atypical form of HUS can affect people of any age, does not have a diarrheal prodrome, and often has a genetic component. Although the gene for factor H of the complement system has been implicated, other genes — such as those for thrombomodulin (TM) — might also be involved.
To test this hypothesis, investigators sequenced the entire TM gene in 152 patients who had atypical HUS and in 380 healthy, matched controls. Six different missense mutations were discovered in …