G6PD deficiency from lyonization after hematopoietic stem cell transplantation from female heterozygous donors

Bone Marrow Transplant. 2007 Oct;40(7):677-81. doi: 10.1038/sj.bmt.1705796. Epub 2007 Jul 30.

Abstract

To determine whether during hematopoietic stem cell transplantation (HSCT), X-chromosome inactivation (lyonization) of donor HSC might change after engraftment in recipients, the glucose-6-phosphate dehydrogenase (G6PD) gene of 180 female donors was genotyped by PCR/allele-specific primer extension, and MALDI-TOF mass spectrometry/Sequenom MassARRAY analysis. X-inactivation was determined by semiquantitative PCR for the HUMARA gene before/after HpaII digestion. X-inactivation was preserved in most cases post-HSCT, although altered skewing of lyonization might occur to either of the X-chromosomes. Among pre-HSCT clinicopathologic parameters analyzed, only recipient gender significantly affected skewing. Seven donors with normal G6PD biochemically but heterozygous for G6PD mutants were identified. Owing to lyonization changes, some donor-recipient pairs showed significantly different G6PD levels. In one donor-recipient pair, extreme lyonization affecting the wild-type G6PD allele occurred, causing biochemical G6PD deficiency in the recipient. In HSCT from asymptomatic female donors heterozygous for X-linked recessive disorders, altered lyonization might cause clinical diseases in the recipients.

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosomes, Human, X
  • DNA Primers
  • Female
  • Genetic Carrier Screening
  • Genotype
  • Glucosephosphate Dehydrogenase / blood
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Hematopoietic Stem Cell Transplantation / adverse effects*
  • Humans
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Receptors, Androgen / genetics
  • Reference Values
  • Restriction Mapping
  • Siblings
  • Tissue Donors / statistics & numerical data

Substances

  • AR protein, human
  • DNA Primers
  • Receptors, Androgen
  • Glucosephosphate Dehydrogenase