A somatic mosaic for haemophilia A detected at the DNA level

Mol Biol Med. 1988 Feb;5(1):23-7.


A partial gene deletion of about 1700 to 2000 bases spanning exon 3 and part of IVS-3 was identified in one patient with severe haemophilia A. Extensive DNA analysis of his family members revealed that the mother of the proband is a somatic mosaic for an abnormal factor VIII gene, because the defective gene could be identified in a considerable fraction of the leucocytes as well as of the cultured fibroblasts of the mother. This observation is important in estimating the recurrence risk in families of sporadic cases.

Publication types

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

MeSH terms

  • Cells, Cultured
  • Chromosome Deletion
  • DNA / blood
  • DNA / genetics*
  • Exons
  • Factor VIII / genetics*
  • Female
  • Fibroblasts / cytology
  • Genes*
  • Hemophilia A / blood
  • Hemophilia A / genetics*
  • Humans
  • Leukocytes / cytology
  • Male
  • Mosaicism*
  • Pedigree


  • Factor VIII
  • DNA