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A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia

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Summary

Erythrocyte glucose-6-phosphate deficiency is an X-chromosomal-linked hereditary trait often associated with hemolytic anemia. This report defines a new variant designated as Gd(-) Chiapas, which was found in a subject with occasional hemolytic jaundice. The red cell enzyme activity of the subject is about 15% of normal. The variant enzyme is thermolabile in vitro and has faster-than-normal anodal electrophoretic mobility and stronger-than-normal substrate affinity. The patient's hemolytic problem might be correlated with instability of the variant enzyme under physiologic stress.

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Authors and Affiliations

  1. Department of Genetics, Institute of Nutrition, Mexico D. F., Mexico

    Rubén Lisker, Rocio Pérez Briceno & Lydia Agrilar

  2. Department of Biochemical Genetics, City of Hope Medical Center, Duarte, California, USA

    Akira Yoshida

Authors
  1. Rubén Lisker
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  2. Rocio Pérez Briceno
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  3. Lydia Agrilar
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  4. Akira Yoshida
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Additional information

This study was supported in part by the US Public Health Service Grant HL-15125.

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Lisker, R., Briceno, R.P., Agrilar, L. et al. A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia. Hum Genet 43, 81–84 (1978). https://doi.org/10.1007/BF00396481

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  • DOI: https://doi.org/10.1007/BF00396481

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