Open AccessReduced‐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.