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Lecture 5: Hemophilia and Hereditary Factor Deficiencies

Catherine McGuinn MD
Presentation Date: 
October 9, 2025

> Hemophilia, while not the most common bleeding disorder, is widely known among the public.
> It is also known as the "Royal Disease" due to its presence in the European royal families of the late 19th and early 20th Century.
> The earliest records of hemophilia date to the Talmud, a Jewish religious text from over 2000 years ago.
> New generations of treatment, now including gene therapy have made this a very exciting time for patients and their caregivers.

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Catherine McGuinn, MD
Director of the Hemophilia (Bleeding Disorders) program
Weill Cornell Medicine
cam9061@med.cornell.edu

>  Hemarthrosis (joint bleed) is a classic manifestation of severe hemophilia A or B.  

> Hemarthrosis can lead to ankylosis (pathological fusion of a joint), a debilitating complication.

> Image from: Nicholson HJ et al.  Appl Sci (Basel). 2024 Jul 2;14(14):6292. doi: 10.3390/app14146292. Epub 2024 Jul 19. PMID: 39619606; PMCID: PMC11608117.

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