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The Royal Hemophilia

Authors: Victor A. McKusick;

The Royal Hemophilia

Abstract

O n April 7, 1853, Queen Victoria of England gave birth to the eighth of her nine childl'en. From the beginning the infant Leopold was sickly; his baptism was postponed for almost three months. It may be that the trauma of birth had resulted in hemor­ rhages. In any event it soon became evident that he had an unusual tendency to bleed even from trivial injuries; Prince Leopold suffered from hemophil­ ia. His birth made medical history for quite a different reason: at the confine­ ment Victoria received chloroform, the anesthetic introduced by James Young Simpson of Edinburgh only six years earlier. Many were quick to see a con­ nection between hemophilia in the new­ born prince and the use of an anesthet­ ic; a bitter controversy occupied the press and the church of Victorian En­ gland. Painless childbirth was viewed by some as a defiance of the Scriptural admonition that "in sorrow thou shalt bring forth children." Hemophilia is a disease caused by a genetic defect; an individual who suf­ fers from it bleeds too freely because he cannot produce a factor in the blood that causes the plasma to coagulate. It is a sex-linked, recessive defect orig­ inally resulting from the mutation of a gene in the X chromosome of a germ cell-either the sperm of the father or the egg of the mother [see illustration on page 92]. If the child is a male, he will be hemophilic; if a female, she will be a carrier of the disease (although she will rarely suffer from it), and the chances are one out of two that her sons will be hemophilic and her daugh­ ters carriers. The sons of a hemophilic father will carry no trace of the heredi­ tary defect, since they receive his Y (and not his X) chromosome. All his daughters, however, will be carriers.

Keywords

Europe, History, Famous Persons, Genetics, Medical, Humans, Hemophilia A

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
28
Average
Top 10%
Average
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