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A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia
Elisa Fermo1, Paola Bianchi, Cristina Vercellati
1Dipartimento di Ematologia, IRCCS Ospedale Maggiore di Milano, Milan, Italy.
Abstract:
We report the hematological, biochemical, and molecular characteristics of a new defective adenylate kinase (AK) variant associated with chronic hemolytic anemia. The propositus was a 3-year-old girl of southern Italian origin with a history of severe anemia and occasional need for blood transfusion. The study of the most important red cell enzymes revealed low AK activity (22% of normal) in the propositus and intermediate values in the parents. The sequence of erythrocyte AK-1 gene showed a new homozygous mutation (delG138) determining a frameshift and a premature stop at codon 91.
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