Autosomal Dominant Hemolytic Anemia and Adenosine Deaminase Overproduction
Paglia et al have described a kindred with an autosomal dominant hemolytic anemia characterized by a 70- to 100-fold elevation in erythrocyte adenosine deaminase (ADA) activity and decreased ATP pools (1, 2). The disorder appears to be limited to red blood cells (RBC), as B lymphoblast, granulocyte, and skin fibroblast ADA activities fall within the normal range. Kinetic and physicochemical properties of ADA partially purified from proband RBC are normal, suggesting that the enzyme contains no structural abnormalities (3).
KeywordsAdenosine Deaminase Adenosine Deaminase Activity Lymphoblast Cell Line Adenine Nucleotide Metabolism Human Adenosine Deaminase
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