In 1813 Hay1 described "a remarkable hemorrhagic disposition" in Oliver Appleton of Ipswich (Mass.), born in 1677, and in 18 of his male descendants. Hay recognized the pedigree pattern characteristic of a sex-linked recessive trait as well as the typical clinical features of hemophilia. In 1885 Osler2 obtained follow-up information adding 2 more affected males. The present investigation of the same family has had the following aspects:
Hemophilia has been traced back with reasonable certainty to the hemophilic maternal grandfather of Oliver Appleton, born in 1613.
Precise vital statistics and other information have been obtained for many of the family members referred to by Hay and Osler.
The kindred has been traced to the present in as complete detail as possible with demonstration of a total of 25 hemophilic males and 27 carrier females and with identification of the gene in one presently living descendant.
Thank you for submitting a comment on this article. It will be reviewed by JAMA Internal Medicine editors. You will be notified when your comment has been published. Comments should not exceed 500 words of text and 10 references.
Do not submit personal medical questions or information that could identify a specific patient, questions about a particular case, or general inquiries to an author. Only content that has not been published, posted, or submitted elsewhere should be submitted. By submitting this Comment, you and any coauthors transfer copyright to the journal if your Comment is posted.
* = Required Field
Disclosure of Any Conflicts of Interest*
Indicate all relevant conflicts of interest of each author below, including all relevant financial interests, activities, and relationships within the past 3 years including, but not limited to, employment, affiliation, grants or funding, consultancies, honoraria or payment, speakers’ bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued. If all authors have none, check "No potential conflicts or relevant financial interests" in the box below. Please also indicate any funding received in support of this work. The information will be posted with your response.
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 9
Customize your page view by dragging & repositioning the boxes below.
More Listings atJAMACareerCenter.com >
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.