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A Possible New Variant of G‐6‐PD with Decreased Activity (G‐6‐PD‐Utrecht) in a Dutch Family with Hereditary Spherocytosis
Author(s) -
Staal G. E. J.,
Punt K.,
Geerdink R. A.,
Bos Miss C. C.,
Bartstra Miss H.
Publication year - 1970
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1970.tb01921.x
Subject(s) - hereditary spherocytosis , spherocytosis , genetics , medicine , biology , splenectomy , spleen
Three generations of a Dutch family were studied in which two unrelated genetic abnormalities of the red cells were present, namely hereditary spherocytosis and a deficiency of G‐6‐PD. The physical and biological characteristics of the enzyme were determined. The G‐6‐PD variant differs from all other G‐6‐PD variants described in the literature. Preliminary it is given the name of G‐6‐PD‐Utrecht.