Carrier detection and prenatal diagnosis in haemophilia A and B

Haematologica. 1990 Sep-Oct;75(5):424-8.

Abstract

Sixty probable carriers of haemophilia from 25 families were studied by using coagulation phenotype and DNA analysis: 33 with haemophilia A and 27 with haemophilia B. Coagulation phenotype was based on factor VIII/IX assay and DNA analysis on the examination of restriction fragment length polymorphisms (RFLPs) within and closely linked to factor VIII or IX: 3 RFLP for factor VIII and 3 for factor IX. The comparison between the coagulation phenotype and RFLP analysis showed the misclassification of 15 females (6 for haemophilia A and 9 for haemophilia B). Four prenatal haemophilia A diagnosis were made by DNA analysis of chorionic villi, taken with a transcervical trophoblastic biopsy, between the 18th and the 11th week.

MeSH terms

  • Chorionic Villi Sampling*
  • DNA Probes*
  • Dosage Compensation, Genetic
  • Factor IX / genetics
  • Factor VIII / genetics
  • False Negative Reactions
  • False Positive Reactions
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Genetic Carrier Screening*
  • Genetic Markers
  • Hemophilia A / diagnosis*
  • Hemophilia A / genetics
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • DNA Probes
  • Genetic Markers
  • Factor VIII
  • Factor IX