[Prevention of new cases of the disease in families of hemophilia patients in Moscow using a genetic register]

Gematol Transfuziol. 1994 Jul-Aug;39(4):21-2.
[Article in Russian]

Abstract

The genetic familial register in question contains information on 441 hemophilia patients. Two-thirds of the patients suffered from moderate or severe hemophilia, 81.3% had hemophilia A. Fifty-two families with the latter disease were examined with molecular methods which confirmed heterozygous carriage in 40% of the female examinees. The prenatal diagnosis in two families led to delivery of healthy boys. The genetic register provides effective protection for hemophiliac families.

MeSH terms

  • Female
  • Genetic Carrier Screening
  • Hemophilia A / epidemiology
  • Hemophilia A / genetics*
  • Hemophilia A / prevention & control*
  • Humans
  • Male
  • Moscow / epidemiology
  • Registries*
  • Risk Factors