Successful allogeneic bone marrow transplantation using immunosuppressive conditioning regimen for a patient with red blood cell transfusion-dependent pyruvate kinase deficiency anemia

  • Maiko Shimomura | shimomai0105@yahoo.co.jp Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Takehiko Doi Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Shiho Nishimura Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Yusuke Imanaka Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Shuhei Karakawa Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Satoshi Okada Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Hiroshi Kawaguchi Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
  • Masao Kobayashi Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.

Abstract

Pyruvate kinase deficiency (PKD) is the rare glycolytic enzyme defect causing hemolytic anemia. Treatments are mainly red cell transfusion and/or splenectomy, leading to iron overload. Allogeneic bone marrow transplantation (BMT) is alternatively curative treatment for severe PKD. The intensity of conditioning is often controversial because of higher risk of graft failure and organ damage. Here, we present a transfusion-dependent PKD patient undergoing BMT from an HLA-identical sibling using intensively immunosuppressive conditioning regimen. This report suggests that BMT using immunosuppressive conditioning regimen may be a feasible and effective treatment for patients with severe PKD with iron overload. We suggest the timing of the transplantation at an earlier age in severe PKD predicted from gene mutation is preferred before cumulative damage of transfusion.

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Published
2020-05-15
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Section
Case Reports
Keywords:
Pyruvate kinase deficiency, allogeneic hematopoietic cell transplantation, immunosuppressive conditioning regimen
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How to Cite
Shimomura, M., Doi, T., Nishimura, S., Imanaka, Y., Karakawa, S., Okada, S., Kawaguchi, H., & Kobayashi, M. (2020). Successful allogeneic bone marrow transplantation using immunosuppressive conditioning regimen for a patient with red blood cell transfusion-dependent pyruvate kinase deficiency anemia. Hematology Reports, 12(1). https://doi.org/10.4081/hr.2020.8305