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A New Glucose-6-Phosphate Dehydrogenase Variant G6PD Sugao (826C→T) Exhibiting Chronic Hemolytic Anemia With Episodes of Hemolytic Crisis Immediately After Birth

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Abstract

A case of glucose-6-phosphate dehydrogenase (G6PD) deficiency associated with chronic hemolysis with episodes of hemolytic crisis immediately after birth is reported. The propositus was a 1-month-old Japanese male infant. Molecular analysis of the G6PD gene revealed a novel missense mutation (826C→T) in exon 8 predicting a single amino acid substitution, Pro276Ser. The mother was confirmed to be heterozygous for this mutation. We designated this novel class 1 variant as G6PD Sugao. Pro276 is a phylogenetically conserved residue that may play a significant role in dimer formation.

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Authors and Affiliations

  1. Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan

    Masashi Taki, Momoko Kawata, Miwako Den, Yachiyo Kurihara, Hironobu Shimizu & Kaneo Yamada

  2. Okinaka Memorial Institute for Medical Research, Tokyo, Japan

    Akira Hirono & Shiro Miwa

  3. Department of Laboratory Medicine, Tokyo Women’s Medical University, Tokyo, Japan

    Hisaichi Fujii

Authors
  1. Masashi Taki
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  2. Akira Hirono
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  3. Momoko Kawata
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  4. Miwako Den
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  5. Yachiyo Kurihara
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  6. Hironobu Shimizu
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  7. Kaneo Yamada
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  8. Hisaichi Fujii
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  9. Shiro Miwa
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Corresponding author

Correspondence to Masashi Taki.

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Taki, M., Hirono, A., Kawata, M. et al. A New Glucose-6-Phosphate Dehydrogenase Variant G6PD Sugao (826C→T) Exhibiting Chronic Hemolytic Anemia With Episodes of Hemolytic Crisis Immediately After Birth. Int J Hematol 74, 153–156 (2001). https://doi.org/10.1007/BF02981998

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  • DOI: https://doi.org/10.1007/BF02981998

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