Mutation analysis impact on the genetic counseling of sporadic hemophilia B families

Maria Patrizia Bicocchi, Mirella Pasino, Federico Bottini, Tiziana Lanza, Pier Giorgio Mori, Maura Acquila

Research output: Contribution to journalArticlepeer-review


Previous studies have shown that hemophilia B (HB) is the result of several different mutations, mostly single nucleotide substitutions, in the factor IX (FIX) gene. In order to evaluate the impact of mutation analysis on genetic counseling in sporadic and uninformative HB familial pedigrees, we re-analyzed by the conformation sensitive gel electrophoresis (CSGE) technique 14 patients, previously studied by restriction fragment length polymorphisms (RFLPs). A single mutation was present within the FIX gene of each patient: 12 mutations were single base substitutions, 1 was a base insertion, and 1 was a four nucleotide deletion; 4/12 mutations have not been described so far. By identifying the detrimental mutations in affected males, carrier status was correctly diagnosed in all the women we studied; 3/12 de novo events were found in maternal meioses with a 25% mutation rate. Identification of the genetic defect was also successfully applied to three prenatal diagnoses.

Original languageEnglish
Pages (from-to)328-331
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume118 A
Issue number4
Publication statusPublished - May 1 2003


  • Carrier detection
  • CSGE
  • FIX mutations
  • Genetic counseling
  • Prenatal diagnosis
  • Sporadic hemophilia B

ASJC Scopus subject areas

  • Genetics(clinical)


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