Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia | Zendy

Kim Min Hee | Zendy; Shah Sanjay | Zendy; Bottomley Sylvia S. | Zendy; Shah Niketa C. | Zendy

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Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

Author(s) -

Kim Min Hee,

Shah Sanjay,

Bottomley Sylvia S.,

Shah Niketa C.

Publication year - 2018

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.1667

Subject(s) - medicine , sideroblastic anemia , hematopoietic stem cell transplantation , conditioning regimen , stem cell , haematopoiesis , anemia , transplantation , hematopoietic stem cell , regimen , savior sibling , immunology , biology , genetics

Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented. Her transfusion dependence was fully reversed following allogeneic hematopoietic stem cell transplantation using a modified reduced‐intensity conditioning regimen, and she remains healthy 5 years posttransplant.

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