Nouvelle revue francaise d'hematologie · 1975
[Neo-natal hyperbilirubinemia and G-6-PD Ankara deficiency, a new enzymatic variant discovered in a Turkish family (author's transl)].
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North M L, Kahn A, Messer K J, Willard D, Boivin P
Аннотация
A G-6-PD deficiency has been found in a Turkish male premature with neo-natal hyperbilirubinemia. His parents have no hemolytic antecedents. The propositus has a severe enzym deficiency in erythrocytes, a very decreased activity in leukocytes and platelets. His mother was heterozygous for this variant and his father had no abnormality. The deficient enzym was a new variant: G-6-PD Ankara. The main characteristics of this variant were the following: 1 degree severe enzym deficiency in erythrocytes (8% of normal); 2 degrees fast starch gel electrophoretic mobility (110% of normal); 3 degrees enzym instability in vivo and in vitro; 4 degrees increased KiNADPH; 5 degrees decreased molecular specific activity (58% of normal). Only variant B(-) G-6-PD deficiency have hitherto been described in Turkey. In contrast, G-6-PD Ankara is a fast variant and is unlike any other known variants.