Practical-Haemostasis.com

A Practical Guide to Laboratory Haemostasis

Genetics in Haemostasis

Introduction

This section of Practical-Haemostasis.com is designed to introduce you to molecular genetics as it relates to the inherited bleeding disorders. It is not a primer on genetics - there are some excellent sites on the internet that will do that. The Web also contains a number of useful mutational databases and related to the genetics of the inherited bleeding disorders and we have included links to some of these.

Much of this is devoted to X-linked disorders but the principles are similar to autosomal disorders.

This part of the site is divided into 3 principal sections:

Pedigree and Bayesian Risk Analysis
Linkage Analysis
Mutational Analysis

A further section adresses the Factor V Leiden and the Prothrombin G20210A mutations.

Data Interpretation

Click HERE to go to the Data Interpretation Exercises.

Comments

This site is not designed to be a primer on molecular genetics. There are some excellent resources available on the Internet that address this topic - try a Google seach on 'Primer on Molecular Genetics.'

References

1. Keeney S, Bowen D, Cumming A, Enayat S, Goodeve A, Hill M. The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network. Haemophilia. 2008 Sep;14(5):1099-111.

2. Perry DJ, Goodeve A, Hill M, Jennings I, Kitchen S, Walker I. The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia. Thromb Haemost. 2006 Nov;96(5):597-601.

3. Mitchell M, Keeney S, Goodeve A. The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network. Haemophilia. 2005 Jul;11(4):398-404.

4. Keeney S, Mitchell M, Goodeve A. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network. Haemophilia. 2005 Jul;11(4):387-97.