Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation

Am J Hematol. 2015 Dec;90(12):E217-9. doi: 10.1002/ajh.24178. Epub 2015 Nov 17.

Affiliations

¹ Red Cell Pathology Unit, Hospital Clínic, IDIBAPS, University of Barcelona, Spain.
² Immunology Department, Hospital Clínic, IDIBAPS, Barcelona, Spain.
³ Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht, the Netherlands.
⁴ Department of Pediatrics, Hospital Niño Jesús, Madrid, Spain.
⁵ Department of Medical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

PMID: 26315463
DOI: 10.1002/ajh.24178

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Anemia, Hemolytic, Congenital / genetics*
Anemia, Hemolytic, Congenital / metabolism*
Anemia, Hemolytic, Congenital Nonspherocytic / genetics*
Anemia, Hemolytic, Congenital Nonspherocytic / metabolism*
Germ-Line Mutation
Humans
Male
Paternal Exposure
Pyruvate Kinase / deficiency*
Pyruvate Kinase / genetics
Pyruvate Kinase / metabolism
Pyruvate Metabolism, Inborn Errors / genetics*
Pyruvate Metabolism, Inborn Errors / metabolism*

Substances

Pyruvate Kinase

Supplementary concepts

Pyruvate Kinase Deficiency of Red Cells