MUTATION UPDATE SLC25A38
SLC25A38 Congenital Sideroblastic Anemia : Phenotypes
and genotypes of 31 individuals from 24 families, including 11 novel
mutations, and a review of the literature
Matthew M. Heeney1*, Simon Berhe2*,
Dean R. Campagna2*, Joseph H. Oved3,
Peter Kurre4, Peter J. Shaw5,
Juliana Teo6, Mayada Abu Shanap7,
Hoda M. Hassab8, Bertil E. Glader9,
Sanjay Shah10, Ayami Yoshimi11,
Afshin Ameri12, Joseph H. Antin13,
Jeanne Boudreaux14, Michael
Briones14, Kathryn E. Dickerson15,
Conrad V. Fernandez16, Roula
Farah17, Henrik Hasle18, Sioban B.
Keel19, Timothy S. Olson20,
Jacquelyn M. Powers21, Melissa J.
Rose22, Akiko Shimamura1, Sylvia S.
Bottomley23, Mark D. Fleming2
1Division of Hematology, Dana-Farber Boston Children’s
Cancer and Blood Disorders Center and Department of Pediatrics, Harvard
Medical School, Boston, MA, USA
2Department of Pathology, Boston Children’s Hospital
and Harvard Medical School, Boston, MA, USA
3Cellular Therapy and Transplant Section, Division of
Oncology and Comprehensive Bone Marrow Failure Center, Division of
Hematology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
4Pediatric Comprehensive Bone Marrow Failure Center,
Children’s Hospital of Philadelphia, Philadelphia, PA, USA
5BMT Services, Children’s Hospital at Westmead;
Faculty of Medicine and Health, University of Sydney, Sydney, AU
6Department of Haematology, Children’s Hospital at
Westmead, Sydney, AU
7King Hussein Medical Center, Amman, Jordan
8Department of Paediatrics, Faculty of Medicine,
Alexandria University, Alexandria, Egypt
9Division of Hematology-Oncology, Lucille Packard
Children’s Hospital, Stanford, CA, USA
10Center for Cancer and Blood Disorders, Phoenix
Children’s Hospital, Phoenix, AZ, USA
11Department of Paediatrics and Adolescent Medicine,
Division of Paediatric Haematology and Oncology, Medical Center, Faculty
of Medicine, University of Freiburg, Freiburg, Germany
12Division of Pediatric Hematology/Oncology,
Department of Pediatrics, Augusta University, Augusta, GA, USA
13Hematopoietic Stem Cell Transplantation Program,
Dana-Farber Cancer Institute, and Harvard Medical School, Boston, MA,
USA
14Aflac Cancer and Blood Disorders Center, Children’s
Healthcare of Atlanta and Emory University, Atlanta, GA, USA
15Department of Pediatrics, University of Texas
Southwestern, Dallas, TX, USA
16Division of Hematology-Oncology, IWH Center,
Dalhousie University, Halifax, NS, Canada
17Department of Pediatrics, Lebanese American
University Medical Center, Beirut, Lebanon
18Department of Pediatrics, Aarhus University
Hospital, Aarhus University, Aarhus, Denmark
19Division of Hematology, Department of Medicine,
University of Washington and Seattle Cancer Care Alliance, Seattle, WA,
USA
20Cellular Therapy and Transplant Section, Division of
Oncology and Comprehensive Bone Marrow Failure Center, Division of
Hematology, Children’s Hospital of Philadelphia, Philadelphia, PA, USA
21Texas Children’s Hospital and Department of
Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine,
Houston, TX, USA
22Division of Hematology & Oncology, Nationwide
Children’s Hospital, Department of Pediatrics, The Ohio State
University, Columbus, OH, USA
23Hematology-Oncology Section, University of Oklahoma
College of Medicine, Oklahoma City, OK, USA
*These authors contributed equally.
Funding sources: R01 DK087992 and American Society of
Hematology Bridge Grant (M.D.F) and RC2 DK122533 (M.D.F. and A.S.)