
History of Classical Hemophilia in a New England Family
VICTOR A. McKUSICK, M.D.;
SAMUEL I. RAPAPORT, M.D.
Arch Intern Med. 1962;110(2):144-149.
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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.
. . . [Full Text PDF of this Article]
Author Affiliations
BALTIMORE; LOS ANGELES
Professor of Medicine (Dr. McKusick); Associate Professor of Medicine (Dr. Rapaport).; From the Departments of Medicine, Johns Hopkins University School of Medicine (Dr. McKusick) and University of Southern California School of Medicine (Dr. Rapaport).
Footnotes
Submitted for publication April 14, 1962.
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