A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia.
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.
Dipartimento di Ematologia, IRCCS Ospedale Maggiore di Milano, Milan, Italy.
Elisa
E
Fermo
Paola
P
Bianchi
Cristina
C
Vercellati
Silvia
S
Micheli
Anna Paola
AP
Marcello
Dario
D
Portaleone
Alberto
A
Zanella
D000263:Adenylate Kinase / Q000235:genetics*; D000743:Anemia, Hemolytic / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005091:Exons; D005260:Female; D006801:Humans; D012333:RNA, Messenger / Q000235:genetics; D012156:Reticulocytes / Q000201:enzymology; D017384:Sequence Deletion
D012333:RNA, Messenger; D000263:Adenylate Kinase