Mosaicism and haemophilia

Haemophilia. 2009 Oct 30. doi: 10.1111/j.1365-2516.2009.02124.x. Epub 2009 Oct 30.

Abstract

Mosaicism may affect the haemophilia phenotype. Well-known instances include chromosomal mosaicism due to aneuploidy and pseudo-mosaicism due to varying patterns of X-chromosome inactivation. Chromosomal mosaicism in a chimera is a potential source of phenotypic variation. Gene mosaicism is commonplace. Its pattern and effect depend on the stage of development at which a mutation occurs. Proven or possible genetic mosaicism is an important consideration when predicting the likelihood of transmission of haemophilia to a future generation.

Publication types

  • Retracted Publication