Hemophilia historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2]

Overview

Hemophilia is considered a very old disease with its history dating back to the 2nd century AD. The first modern descriptions of the condition appeared during the 1800s. Extensive work has been done over the centuries regarding the classification, inheritance pattern, and treatment of hemophilia.

Historical Perspective

Discovery

  • References to a condition associated with bleeding and suggestive of hemophilia date back to the 2nd century AD.[1][2]
  • Ancient religious script compilations, such as The Babylonian Tarmud, have also mentioned the condition along with relative fatal bleeding episode prevention.[2][3]
  • Abu Qasim Khalaf Ibn Abbas Al Zahrawi, a pioneer of modern surgery, known in the West as Albucasis or Zahravius, described potential hemophilia cases in the 10th century.
  • G. W. Consbruch of Bielefeld, Germany, described a bleeding disease very similar to hemophilia in 1793.
  • Dr John Conrad Otto, an American physician, takes the credit for the first modern description of hemophilia in 1803. He described a bleeding disorder, transmitted via unaffected females and affecting only males. His work was published under the title “An account of an hemorrhagic disposition existing in certain families”.[4]
  • In 1813, John F. Hay published his first analysis of a hemophilia family tree in the New England Journal of Medicine.[3]
  • Christian Friedrich Nasse, a German physician and psychiatrist, described the genetics of hemophilia in 1820 and his work resulted in Nasse's law, which states that hemophilia is transmitted entirely by unaffected females to their sons.[5]
  • A German physician, Johann Lukas Schönlein and his student Friedrich Hopff, documented the word "hemophilia" for the first time in 1828 and the condition was described in his dissertation "About hemophilia or the hereditary predisposition to fatal bleeding".[6]
  • Nasse's law prompted further scientific debate leading to publications by J. Grandidier in 1855, John Wickham Legg in 1872, and Hermann Immermann in 1879.[3]
  • The analysis of a hemophilia family tree by John F. Hay was followed by analyses from Sir William Osler in 1885, Kathleen P. Pratt in 1908, F. Koller and his group in 1954, and Victor A. Mckusick and Samuel I. Rapaport in 1962.
  • William Bulloch and Paul Gordon Fildes published a detailed description of the early history of hemophilia in 1912 under the title "Treasury of human inheritance".[7]

References

  1. Brinkhous, K. M. (1975). Handbook of hemophilia. Amsterdam New York: Excerpta Medica Sole distributors for the U.S.A. and Canada, American Elsevier Pub. Co. ISBN 9789021920962.
  2. 2.0 2.1 Rosendaal FR, Smit C, Briët E (February 1991). "Hemophilia treatment in historical perspective: a review of medical and social developments". Ann. Hematol. 62 (1): 5–15. PMID 1903310.
  3. 3.0 3.1 3.2 Ingram, G. I. C. (1997). "The history of haemophilia*,†". Haemophilia. 3 (S1): 5–15. doi:10.1111/j.1365-2516.1997.tb00168.x. ISSN 1351-8216.
  4. Otto JC (July 1996). "An account of an hemorrhagic disposition existing in certain families". Clin. Orthop. Relat. Res. (328): 4–6. PMID 8653976.
  5. Brinkhous, K. M. (1975). Handbook of hemophilia. Amsterdam New York: Excerpta Medica Sole distributors for the U.S.A. and Canada, American Elsevier Pub. Co. ISBN 9789021920962.
  6. Krieger, Marie (1920). Über die Atrophie der Menschlichen Organe bei Inanition. Berlin, Heidelberg: Springer Berlin Heidelberg Imprint Springer. ISBN 3662229374.
  7. Francis, Sir, Bulloch, William (1909). Treasury of human inheritance. London: Cambridge University Press.

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