ABSTRACT
Herein we report a 10.9 kb deletion and a 95 bp inversion in a patient with severe hemophilia B (factor IXHB209). With the addition of factor IXHB209, three of six characterized deletions in the factor IX gene are now known to include inversions. A high frequency of combined deletions and inversions has not previously been described in a human gene.
Subject(s)
Chromosome Inversion , Factor IX/genetics , Hemophilia B/genetics , Mutation , Sequence Deletion , Base Sequence , DNA , Humans , Molecular Sequence DataABSTRACT
Lactic acidosis, a rare and usually fatal complication of malignancy, is defined as a clinical condition in which the pH is less than or equal to 7.35 and the serum lactate level greater than or equal to 5 mEq/L. We have described the clinical aspects of four cases of lactic acidosis associated with malignancy, and have reviewed all reported cases of lactic acidosis in malignancy meeting the criteria. Rapid recognition of the condition and prompt institution of chemotherapy led to reversal of lactic acidosis in three of our four patients, but long-term survival is related to the responsiveness of the underlying tumor.
