Genetic testing in bleeding disorders.

@article{Brasi2014GeneticTI,
  title={Genetic testing in bleeding disorders.},
  author={Carlos Daniel De Brasi and Osman el-Maarri and David J. Perry and Johannes Oldenburg and Behnaz Pezeshkpoor and A Goodeve},
  journal={Haemophilia : the official journal of the World Federation of Hemophilia},
  year={2014},
  volume={20 Suppl 4},
  pages={
          54-8
        }
}
The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable information for the patient and his relatives. For the patient, mutation identification may highlight inhibitor development risk or discrepancy between different factor VIII assays. For female relatives, knowledge of the familial mutation can facilitate carrier status determination and prenatal diagnosis. Recent advances in understanding… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 12 CITATIONS

Management of Inherited Bleeding Disorders in Pregnancy: Green-top Guideline No. 71 (joint with UKHCDO).

  • BJOG : an international journal of obstetrics and gynaecology
  • 2017
VIEW 1 EXCERPT
CITES BACKGROUND

References

Publications referenced by this paper.
SHOWING 1-10 OF 28 REFERENCES

Best Practice Guidelines for Reporting Molecular Genetics Results

Treacy RJL, DO Robinson
  • Available at http://www. cmgs.org/BPGs/best_practice_guidelines.htm. Accessed January
  • 2014

Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22 h and int1 h hotspots from © 2014

CP Radic, LC Rossetti, JR Zuccoli
  • 2014

F8 genetic anylsis strategies when standard approches fail

B Pezeshkpoor, A Pavlova, J Oldenburg
  • Haemostaseologie
  • 2013

Are int 22 h - mediated deletions a common cause of hemophilia ?

MM Abelleyro, LC Rossetti, CP Radic
  • 2012

Identification of a third rearrangement at Xq 28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats

E Dequeker, JJ Cassiman
  • 2012

ated with duplications and in utero male lethality with deletions

MM Abelleyro, LC Rossetti, CP Radic
  • J Med Genet
  • 2011