Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia

We describe a girl with Diamond-Blackfan anemia with accompanying red cell enolase deficiency. At the age of 9 yr old, the patient received allogeneic bone marrow transplantation from her HLA-identical sister who had normal red cell enolase activity. While the post transplant DNA analysis with short...

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Detalles Bibliográficos
Autores principales: Park, Jeong A, Lim, Yeon Jung, Park, Hyeon Jin, Kong, Sun Young, Park, Byung Kiu, Ghim, Thad T.
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844588/
https://www.ncbi.nlm.nih.gov/pubmed/20358009
http://dx.doi.org/10.3346/jkms.2010.25.4.626
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author Park, Jeong A
Lim, Yeon Jung
Park, Hyeon Jin
Kong, Sun Young
Park, Byung Kiu
Ghim, Thad T.
author_facet Park, Jeong A
Lim, Yeon Jung
Park, Hyeon Jin
Kong, Sun Young
Park, Byung Kiu
Ghim, Thad T.
author_sort Park, Jeong A
collection PubMed
description We describe a girl with Diamond-Blackfan anemia with accompanying red cell enolase deficiency. At the age of 9 yr old, the patient received allogeneic bone marrow transplantation from her HLA-identical sister who had normal red cell enolase activity. While the post transplant DNA analysis with short tandem repeat has continuously demonstrated a stable mixed chimerism on follow-up, the patient remains transfusion independent and continues to show a steady increase in red cell enolase activity for over two and a half years following bone marrow transplantation.
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spelling pubmed-28445882010-04-01 Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia Park, Jeong A Lim, Yeon Jung Park, Hyeon Jin Kong, Sun Young Park, Byung Kiu Ghim, Thad T. J Korean Med Sci Case Report We describe a girl with Diamond-Blackfan anemia with accompanying red cell enolase deficiency. At the age of 9 yr old, the patient received allogeneic bone marrow transplantation from her HLA-identical sister who had normal red cell enolase activity. While the post transplant DNA analysis with short tandem repeat has continuously demonstrated a stable mixed chimerism on follow-up, the patient remains transfusion independent and continues to show a steady increase in red cell enolase activity for over two and a half years following bone marrow transplantation. The Korean Academy of Medical Sciences 2010-04 2010-03-19 /pmc/articles/PMC2844588/ /pubmed/20358009 http://dx.doi.org/10.3346/jkms.2010.25.4.626 Text en © 2010 The Korean Academy of Medical Sciences. http://creativecommons.org/licenses/by-nc/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Park, Jeong A
Lim, Yeon Jung
Park, Hyeon Jin
Kong, Sun Young
Park, Byung Kiu
Ghim, Thad T.
Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia
title Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia
title_full Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia
title_fullStr Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia
title_full_unstemmed Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia
title_short Normalization of Red Cell Enolase Level Following Allogeneic Bone Marrow Transplantation in a Child with Diamond-Blackfan Anemia
title_sort normalization of red cell enolase level following allogeneic bone marrow transplantation in a child with diamond-blackfan anemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2844588/
https://www.ncbi.nlm.nih.gov/pubmed/20358009
http://dx.doi.org/10.3346/jkms.2010.25.4.626
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