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[Glutathione synthetase deficiency]

H Iyori1, A Hirono, N Kobayashi

  • 1Department of Paediatrics, the Jikei University School of Medicine, Tokyo, Japan.

[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|April 1, 1996
PubMed
Summary

This study reports the first Japanese patient diagnosed with red cell glutathione synthetase (GS) deficiency, a rare inherited condition causing hemolytic anemia. Early diagnosis and management are crucial for patients with this genetic disorder.

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Area of Science:

  • Biochemistry
  • Hematology
  • Genetics

Background:

  • Nonspherocytic hemolytic anemia can be inherited, presenting with varying severity.
  • Red cell glutathione synthetase (GS) deficiency is a rare enzyme defect impacting red blood cell survival.

Observation:

  • A Japanese male infant presented with compensated hemolytic anemia since birth.
  • Clinical findings included Heinz body formation, target cells, and increased osmotic fragility.
  • Laboratory tests revealed significantly decreased reduced glutathione (GSH) and GS activity.

Findings:

  • The patient exhibited markedly reduced glutathione synthetase (GS) activity, confirming GS deficiency.
  • Reduced glutathione S-transferase (GST) activity was also noted.
  • The patient had no neurological symptoms, with normal mental development.

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Implications:

  • This case represents the first documented instance of red cell GS deficiency in a Japanese patient.
  • Highlights the importance of biochemical testing for diagnosing rare inherited hemolytic anemias.
  • Contributes to the global understanding of GS deficiency, previously reported in approximately 30 families worldwide.