Chapter 10. Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders

  1. Steve Kitchen PhD Clinical Scientist Scientific Director5,6,7,
  2. John D. Olson MD, PhD Professor Vice Chair for Clinical Affairs8,
  3. F. Eric Preston MD, FRCPath, FRCP Emeritus Professor of Hematology Director9,10
  1. S. Lethagen PhD, MD1,
  2. M. Schwartz PhD2,
  3. L. B. Nielsen MD, PhD, DMsc3,4

Published Online: 4 MAR 2009

DOI: 10.1002/9781444303575.ch10

Book Title

Quality in Laboratory Hemostasis and Thrombosis

Quality in Laboratory Hemostasis and Thrombosis

Additional Information

How to Cite

Lethagen, S., Schwartz, M. and Nielsen, L. B. (2009) Application of Molecular Genetics to the Investigation of Inherited Bleeding Disorders, in Quality in Laboratory Hemostasis and Thrombosis (eds S. Kitchen, J. D. Olson and F. E. Preston), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444303575.ch10

Editor Information

  1. 5

    Sheffield Hemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Sheffield, UK

  2. 6

    UK National External Quality Assessment Scheme (EQAS) for Blood Coagulation, Sheffield, UK

  3. 7

    WHO and WFH International External Quality Assessment Programs for Blood Coagulation, Sheffield, UK

  4. 8

    Department of Pathology, University of Texas Health Science Center, San Antonio, Texas, USA

  5. 9

    University of Sheffield, Sheffield, UK

  6. 10

    WHO and WFH International External Quality Assessment Programs for Blood Coagulation, Rutledge Mews, Sheffield, UK

Author Information

  1. 1

    Copenhagen Hemophilia Center, Thrombosis and Hemostasis Unit, Department of Hematology, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark

  2. 2

    Department of Clinical Genetics, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark

  3. 3

    Department of Clinical Biochemistry, Copenhagen University Hospital (Rigshospitalet), Copenhagen, Denmark

  4. 4

    Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark

Publication History

  1. Published Online: 4 MAR 2009
  2. Published Print: 19 DEC 2008

ISBN Information

Print ISBN: 9781405168038

Online ISBN: 9781444303575

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Keywords:

  • hemophilia - X-linked inherited bleeding disorder;
  • inherited bleeding disorders;
  • genes and their mutations;
  • genotypic–phenotypic relationship;
  • multiplex ligation-dependent probe amplification (MLPA);
  • genetic counseling, prenatal and preimplantation diagnosis;
  • Hemophilia A and B - X-linked recessive diseases;
  • other rare bleeding disorders;
  • external quality assessment (EQA) for molecular testing in hemophilia

Summary

This chapter contains sections titled:

  • Hemophilia A and B

  • The genes and their mutations

  • Other rare bleeding disorders

  • Internal quality control

  • External quality assessment

  • Reporting

  • References

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