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[Neo-natal hyperbilirubinemia and G-6-PD Ankara deficiency, a new enzymatic variant discovered in a Turkish family (author's transl)].

Authors :
North ML
Kahn A
Messer KJ
Willard D
Boivin P
Source :
Nouvelle revue francaise d'hematologie [Nouv Rev Fr Hematol] 1975 Jul-Aug; Vol. 15 (4), pp. 454-9.
Publication Year :
1975

Abstract

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.

Details

Language :
French
ISSN :
0029-4810
Volume :
15
Issue :
4
Database :
MEDLINE
Journal :
Nouvelle revue francaise d'hematologie
Publication Type :
Academic Journal
Accession number :
132644