Coinheritance of hereditary ellyptocytosis, pyruvate kinase, and glucose-6-phosphate dehidrogenase mutations. A rare anemia diagnostic paradigm

Int J Lab Hematol. 2020 Apr;42(2):e55-e58. doi: 10.1111/ijlh.13110. Epub 2019 Sep 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anemia / diagnosis
  • Anemia / genetics*
  • Dominican Republic
  • Elliptocytosis, Hereditary / genetics*
  • Family Health
  • Female
  • Glucosephosphate Dehydrogenase / genetics*
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Infant, Newborn
  • Inheritance Patterns / genetics
  • Male
  • Mutation*
  • Pyruvate Kinase / genetics*
  • Rare Diseases / diagnosis
  • Rare Diseases / genetics
  • Twins, Monozygotic / genetics

Substances

  • Glucosephosphate Dehydrogenase
  • Pyruvate Kinase