Skip to main content Accessibility help
×
Hostname: page-component-cd9895bd7-hc48f Total loading time: 0 Render date: 2024-12-27T14:06:47.150Z Has data issue: false hasContentIssue false

Chapter 16 - Genetic counseling and pre-natal diagnosis in hemophilia

from Section 5 - Hemorrhagic disorders

Published online by Cambridge University Press:  06 December 2010

Sue Pavord
Affiliation:
Leicester Royal Infirmary
Beverley Hunt
Affiliation:
Guy's and St Thomas' NHS Foundation Trust
Get access

Summary

Hemophilia is the most common severe genetic bleeding disorder and presents significant risk to the fetus at delivery. Genetic counseling for hemophilia should encompass the issues of carrier testing and pre-natal diagnosis. Successful genetic counseling should be supportive and requires careful two-way discussion between families and healthcare professionals who are familiar with hemophilia management and with the techniques available for carrier testing and pre-natal diagnosis. For women from families with hemophilia, the probability that a pregnancy will yield a fetus that is a male with hemophilia can be calculated from the family pedigree using simple rules of Mendelian inheritance. Determining the probability of hemophilia carriership by pedigree analysis is essential for the genetic counseling process. Genetic counseling, carrier detection and pre-natal diagnosis should also be considered in families with heritable bleeding disorders other than hemophilia, which may also present bleeding risk to an affected fetus.
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2010

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Save book to Kindle

To save this book to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×