Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy

Bone Marrow Transplant. 2016 Dec;51(12):1605-1608. doi: 10.1038/bmt.2016.218. Epub 2016 Sep 5.

Authors

M Kim^{1

2}, J Park^{1

2}, J Lee^{1

2}, W Jang^{1

2}, H Chae^{1

2}, H Choi², J Kim², A Kwon², J-W Lee³, B Cho³, Y Kim^{1

2}, N-G Chung³

Affiliations

¹ Department of Laboratory Medicine, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
² Catholic Genetic Laboratory Center, Seoul St Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
³ Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

PMID: 27595284
DOI: 10.1038/bmt.2016.218

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Alleles
Anemia, Hemolytic / blood
Anemia, Hemolytic / genetics*
Anemia, Hemolytic / surgery*
Bilirubin / analysis
Child
Child, Preschool
Exome
Exome Sequencing
Family Health
Female
Hematopoietic Stem Cell Transplantation*
Humans
Infant
Living Donors
Male
Megakaryocytes / cytology
Mutation
Pyruvate Kinase / genetics*
Siblings
Splenectomy*

Substances

Pyruvate Kinase
Bilirubin