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Sporadic G6PD Deficiency with Haemolytic Anaemia in Two Children of West European Ancestry
Author(s) -
Sonnet J.,
Lievens M.,
Verpoorten C.,
Kriekemans J.,
Eeckels R.
Publication year - 1974
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1974.tb00810.x
Subject(s) - jaundice , glucose 6 phosphate dehydrogenase deficiency , haemolysis , oxidoreductase , red cell , medicine , pediatrics , biology , immunology , enzyme , biochemistry
S ummary . Two unrelated children of Western European ancestry, originating from the North Flemish part of Belgium were found to have a deficiency of red‐cell glucose‐6‐phosphate dehydrogenase (D‐glucose‐6‐phosphate: NADP oxidoreductase, G6PD) activity, with chronic non‐spherocytic haemolytic disease. The first hemizygous propositus exhibited subsequent episodes of haemolytic jaundice precipitated by upper respiratory infections. The second hemizygous propositus had neonatal hyperbilirubinaemia and later chronic haemolytic disease enhanced by febrile upper respiratory tract infections. Characterization of the enzyme of the first case revealed that it was a variant which had not been previously reported and it was tentatively named G6PD Kessel‐Lo.