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]
Discovery of the Antihemophilic Globulin
- A. E. Wright was the first who documented the prolonged clotting time of hemophilic blood in a capillary tube in 1893.[8]
- In 1908, P. Morawitz and J. Lossen proposed a deficiency in thrombokinase associated with hemophilia and disproved the association with calcium deficiency.[8]
- In 1911, T. Addis investigated several blood and tissue factors and concluded that the hemophilic blood has defective prothrombin.[9]
- In 1931, P. Govaerts and A. Gatia proposed that the platelets from hemophilic blood behaved normally when shifted to normal plasma. This finding hinted towards a deficiency in the plasma.[3]
- In 1934, S. Van Creveld demonstrated that a “dispersed protein” fraction obtained from the serum decreased the clotting time of hemophilic blood.[10]
- In 1936, A.J. Patek and F.H.L. Taylor proposed in their publication in Science that in normal blood and in citrated normal plasma rendered free from platelets by Berkefeld filtration, a substance was identified which, in small quantities, reduced the clotting time of hemophilic blood. Between 1936 and 1946, this research group published multiple papers supporting their original hypothesis[11][12]
- A.J. Quick, M. Stanley-Brown, F.W. Bancroft solved the question of whether prothrombin or one of its derivatives is the deficient factor in hemophilia. They concluded that the hemophilic blood has a delayed prothrombin conversion rate.[13]
Landmark Events in the Development of Treatment Strategies
References
- ↑ 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.
- ↑ 2.0 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.
- ↑ 3.0 3.1 3.2 3.3 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.
- ↑ Otto JC (July 1996). "An account of an hemorrhagic disposition existing in certain families". Clin. Orthop. Relat. Res. (328): 4–6. PMID 8653976.
- ↑ 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.
- ↑ Krieger, Marie (1920). Über die Atrophie der Menschlichen Organe bei Inanition. Berlin, Heidelberg: Springer Berlin Heidelberg Imprint Springer. ISBN 3662229374.
- ↑ Francis, Sir, Bulloch, William (1909). Treasury of human inheritance. London: Cambridge University Press.
- ↑ 8.0 8.1 Wright AE (July 1893). "On a Method of Determining the Condition of Blood Coagulability for Clinical and Experimental Purposes, and on the Effect of the Administration of Calcium Salts in Haemophilia and Actual or Threatened Haemorrhage: [Preliminary Communication]". Br Med J. 2 (1700): 223–5. PMC 2422001. PMID 20754381.
- ↑ Addis, T. (1911). "The pathogenesis of hereditary hæmophilia". The Journal of Pathology and Bacteriology. 15 (4): 427–452. doi:10.1002/path.1700150402. ISSN 0368-3494.
- ↑ Creveld, S.; Jordan, F. L. J.; Punt, K. (2009). "Deficiency ot Anti-Hemophilic Factor in a Woman, Combined with a Disturbance in Vascular Function.1". Acta Medica Scandinavica. 151 (5): 381–389. doi:10.1111/j.0954-6820.1955.tb10306.x. ISSN 0001-6101.
- ↑ "Commentary on and reprint of Patek AJ Jr, Taylor FHL, Hemophilia. II. Some properties of substances obtained from human plasma effective in accelerating coagulation of hemophiliac blood, in Journal of Clinical Investigation (1937) 16:113–124". 2000: 573–585. doi:10.1016/B978-012448510-5.50144-8.
- ↑ Hynes HE, Owen CA, Bowie EJ, Thompson JH (March 1969). "Development of the present concept of hemophilia". Mayo Clin. Proc. 44 (3): 193–206. PMID 4887314.
- ↑ Pisciotta AV (August 1980). "Concepts of haemostasis and thrombosis: A study of the coagulation defect in hemophilia and in jaundice (Quick, Stanley-Brown and Bancroft 1935). Armand J. Quick (1894-1978)--a short biography". Thromb. Haemost. 44 (1): 1–5. PMID 6999657.