Hemophilia historical perspective: Difference between revisions

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{{Hemophilia}}
{{Hemophilia}}
{{CMG}};{{AE}} {{Simrat}}
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==Overview==
Hemophilia was first described by Dr. John Conrad Otto, a physician practicing in Philadelphia in 1803 who wrote an account about "a hemorrhagic disposition existing in certain families." He recognized that the disorder was hereditary and that it affected mostly males and rarely affected females.
 
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{{xyz}}
 
{{CMG}}; {{AE}} {{Badria}}


==Overview==
==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 19th century. Extensive work has been done over the centuries regarding the classification, [[Heredity|inheritance]] pattern, and treatment of hemophilia.


==Historical Perspective==
==Historical Perspective==
===Discovery===
===Discovery===
*[[Hemophilia]] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
*References to a condition associated with [[bleeding]] and suggestive of hemophilia date back to the 2nd century AD.<ref>{{cite book | last = Brinkhous | first = K. M. | title = Handbook of hemophilia | publisher = Excerpta Medica Sole distributors for the U.S.A. and Canada, American Elsevier Pub. Co | location = Amsterdam New York | year = 1975 | isbn = 9789021920962 }}</ref><ref name="pmid1903310">{{cite journal |vauthors=Rosendaal FR, Smit C, Briët E |title=Hemophilia treatment in historical perspective: a review of medical and social developments |journal=Ann. Hematol. |volume=62 |issue=1 |pages=5–15 |date=February 1991 |pmid=1903310 |doi= |url=}}</ref>
*Ancient religious script compilations, such as The Babylonian Tarmud, have also mentioned the condition along with relative fatal [[bleeding]] episode [[Prevention (medical)|prevention]].<ref name="pmid1903310">{{cite journal |vauthors=Rosendaal FR, Smit C, Briët E |title=Hemophilia treatment in historical perspective: a review of medical and social developments |journal=Ann. Hematol. |volume=62 |issue=1 |pages=5–15 |date=February 1991 |pmid=1903310 |doi= |url=}}</ref><ref name="Ingram1997">{{cite journal|last1=Ingram|first1=G. I. C.|title=The history of haemophilia*,†|journal=Haemophilia|volume=3|issue=S1|year=1997|pages=5–15|issn=13518216|doi=10.1111/j.1365-2516.1997.tb00168.x}}</ref>
*Abu Qasim Khalaf Ibn Abbas Al Zahrawi, a pioneer of modern [[surgery]], known in the West as Albucasis or Zahravius, described suspected 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 (medicine)|disorder]], [[Transmission (medicine)|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”.<ref name="pmid8653976">{{cite journal |vauthors=Otto JC |title=An account of an hemorrhagic disposition existing in certain families |journal=Clin. Orthop. Relat. Res. |volume= |issue=328 |pages=4–6 |date=July 1996 |pmid=8653976 |doi= |url=}}</ref>
*In 1813, John F. Hay published his first analysis of a hemophilia [[family tree]] in the ''[[New England Journal of Medicine]]''.<ref name="Ingram1997">{{cite journal|last1=Ingram|first1=G. I. C.|title=The history of haemophilia*,†|journal=Haemophilia|volume=3|issue=S1|year=1997|pages=5–15|issn=13518216|doi=10.1111/j.1365-2516.1997.tb00168.x}}</ref>
*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 [[Transmission (medicine)|transmitted]] entirely by unaffected females to their sons.<ref>{{cite book | last = Brinkhous | first = K. M. | title = Handbook of hemophilia | publisher = Excerpta Medica Sole distributors for the U.S.A. and Canada, American Elsevier Pub. Co | location = Amsterdam New York | year = 1975 | isbn = 9789021920962 }}</ref>
*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 with the title "About hemophilia or the hereditary predisposition to fatal bleeding".<ref>{{cite book | last = Krieger | first = Marie | title = Über die Atrophie der Menschlichen Organe bei Inanition | publisher = Springer Berlin Heidelberg Imprint Springer | location = Berlin, Heidelberg | year = 1920 | isbn = 3662229374 }}</ref>
*Nasse's law prompted further [[Science|scientific]] debate leading to [[Publication|publications]] by J. Grandidier in 1855, John Wickham Legg in 1872, and Hermann Immermann in 1879.<ref name="Ingram1997">{{cite journal|last1=Ingram|first1=G. I. C.|title=The history of haemophilia*,†|journal=Haemophilia|volume=3|issue=S1|year=1997|pages=5–15|issn=13518216|doi=10.1111/j.1365-2516.1997.tb00168.x}}</ref>
*The analysis of a hemophilia [[family tree]] by John F. Hay was followed by the 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 [[Publication|published]] a detailed description of the early history of hemophilia in 1912 under the title "Treasury of human [[Heredity|inheritance]]".<ref>{{cite book | last = Francis, Sir | first = Bulloch, William | title = Treasury of human inheritance | publisher = Cambridge University Press | location = London | year = 1909 |}}</ref>


*Hippocrates was the first one who observed the blood of wounded soldier was coagulated as cooled which is traced back to 400 B.C.
===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.<ref name="pmid20754381">{{cite journal |vauthors=Wright AE |title=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] |journal=Br Med J |volume=2 |issue=1700 |pages=223–5 |date=July 1893 |pmid=20754381 |pmc=2422001 |doi= |url=}}</ref>
*In 1908, P. Morawitz and J. Lossen proposed a [[deficiency]] in thrombokinase associated with hemophilia and disproved the association with [[calcium]] [[deficiency]].<ref name="pmid20754381">{{cite journal |vauthors=Wright AE |title=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] |journal=Br Med J |volume=2 |issue=1700 |pages=223–5 |date=July 1893 |pmid=20754381 |pmc=2422001 |doi= |url=}}</ref>
*In 1911, T. Addis investigated several [[blood]] and [[Tissue factor|tissue factors]] and concluded that the hemophilic [[blood]] has defective [[prothrombin]].<ref name="Addis1911">{{cite journal|last1=Addis|first1=T.|title=The pathogenesis of hereditary hæmophilia|journal=The Journal of Pathology and Bacteriology|volume=15|issue=4|year=1911|pages=427–452|issn=0368-3494|doi=10.1002/path.1700150402}}</ref>
*In 1931, P. Govaerts and A. Gatia proposed that the [[Platelet|platelets]] from hemophilic [[blood]] behaved normally when shifted to normal [[Blood plasma|plasma]]. This finding hinted towards a [[deficiency]] in the [[Blood plasma|plasma]].<ref name="Ingram1997">{{cite journal|last1=Ingram|first1=G. I. C.|title=The history of haemophilia*,†|journal=Haemophilia|volume=3|issue=S1|year=1997|pages=5–15|issn=13518216|doi=10.1111/j.1365-2516.1997.tb00168.x}}</ref>
*In 1934, S. Van Creveld demonstrated that a “dispersed [[protein]]” fraction obtained from the [[serum]] decreased the clotting time of hemophilic [[blood]].<ref name="CreveldJordan2009">{{cite journal|last1=Creveld|first1=S.|last2=Jordan|first2=F. L. J.|last3=Punt|first3=K.|title=Deficiency ot Anti-Hemophilic Factor in a Woman, Combined with a Disturbance in Vascular Function.1|journal=Acta Medica Scandinavica|volume=151|issue=5|year=2009|pages=381–389|issn=00016101|doi=10.1111/j.0954-6820.1955.tb10306.x}}</ref>
*In 1936, A.J. Patek and F.H.L. Taylor proposed in their [[publication]] in ''[[Science (journal)|Science]]'' that in normal [[blood]] and in [[Citrate|citrated]] normal [[Blood plasma|plasma]] rendered free from [[Platelet|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 [[Publication|published]] multiple papers supporting their original [[hypothesis]]<ref>{{cite journal|title=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|year=2000|pages=573–585|doi=10.1016/B978-012448510-5.50144-8}}</ref><ref name="pmid4887314">{{cite journal |vauthors=Hynes HE, Owen CA, Bowie EJ, Thompson JH |title=Development of the present concept of hemophilia |journal=Mayo Clin. Proc. |volume=44 |issue=3 |pages=193–206 |date=March 1969 |pmid=4887314 |doi= |url=}}</ref>
*A.J. Quick, M. Stanley-Brown, F.W. Bancroft solved the question of whether [[Thrombin|prothrombin]] or one of its derivatives is the [[Deficiency|deficient]] factor in hemophilia. They concluded that the hemophilic [[blood]] has a normal [[Thrombin|prothrombin]] content.<ref name="pmid6999657">{{cite journal |vauthors=Pisciotta AV |title=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 |journal=Thromb. Haemost. |volume=44 |issue=1 |pages=1–5 |date=August 1980 |pmid=6999657 |doi= |url=}}</ref>
*In 1939, Brinkhous et al. confirmed A.J. Quick's findings and showed that the hemophilic [[blood]] has a delayed [[Thrombin|prothrombin]] conversion rate.<ref name="Brinkhous1947">{{cite journal|last1=Brinkhous|first1=K. M.|title=Clotting Defect in Hemophilia: Deficiency in a Plasma Factor Required for Platelet Utilization|journal=Experimental Biology and Medicine|volume=66|issue=1|year=1947|pages=117–120|issn=1535-3702|doi=10.3181/00379727-66-16003}}</ref>
*In 1947, A.j. Quick and K.M. Brinkhous independently demonstrated that the antihemophilic globulin and [[Platelet|platelets]] react together in a fashion to generate [[Tissue factor|thromboplastin]]. They also proposed that a [[deficiency]] in antihemophilic globulin caused defective [[coagulation]] due to defects in the generation of [[Tissue factor|thromboplastin]].<ref name="pmid20263163">{{cite journal |vauthors=QUICK AJ |title=Studies on the enigma of the hemostatic dysfunction of hemophilia |journal=Am. J. Med. Sci. |volume=214 |issue=3 |pages=272–80 |date=September 1947 |pmid=20263163 |doi= |url=}}</ref><ref name="Brinkhous1947">{{cite journal|last1=Brinkhous|first1=K. M.|title=Clotting Defect in Hemophilia: Deficiency in a Plasma Factor Required for Platelet Utilization|journal=Experimental Biology and Medicine|volume=66|issue=1|year=1947|pages=117–120|issn=1535-3702|doi=10.3181/00379727-66-16003}}</ref>


* Aristotle observed similar finding.  
==Landmark Events in the Development of Treatment Strategies==
* According to many European historians, the earliest written references which could be implictaed as haemophilia are described in Jewish writings of the 2nd century AD.
===Transfusion Medicine===
* A ruling of Rabbi Judah the Patriarch exempts a woman's third son from being circumcised if his two elder brothers had died of bleeding after circumcision. Additionally,he had history of his three sons being died after circumcision
*In 1832, J.L. Schönlein proposed the use of [[blood transfusion]].
*In 1840, Samuel Armstrong Lane treated a case of severe postoperative [[bleeding]] by [[blood transfusion]].<ref name="Lane1840">{{cite journal|last1=Lane|first1=Samuel|title=HÆMORRHAGIC DIATHESIS.|journal=The Lancet|volume=35|issue=896|year=1840|pages=185–188|issn=01406736|doi=10.1016/S0140-6736(00)40031-0}}</ref>
*A German [[surgeon]], Ernst von Bergmann, proposed the idea of using modified [[Saline (medicine)|saline solution]] as an alternative to [[blood transfusion]].<ref>{{cite book | last = Bergmann | first = E. v. | title = Die Schicksale der Transfusion im Letzten Decennium : Rede, Gehalten zur Feier des Stiftungstages der Militärärztlichen Bildungsanstalten am 2. August 1883 | publisher = Springer Berlin Heidelberg | location = Berlin | year = 2013 | isbn = 9783642619298 }}</ref>
*In 1879, H. Kronecker and J. Sander introduced the administration of [[Saline (medicine)|saline]] and it was subsequently improved by Sydney Ringer with the addition of electrolytes.<ref name="Ringer1882">{{cite journal|last1=Ringer|first1=Sydney|title=Regarding the Action of Hydrate of Soda, Hydrate of Ammonia, and Hydrate of Potash on the Ventricle of the Frog's Heart|journal=The Journal of Physiology|volume=3|issue=3-4|year=1882|pages=195–202|issn=00223751|doi=10.1113/jphysiol.1882.sp000095}}</ref>
*In 1930, Karl Landsteiner won the Nobel Prize for his discovery of the [[Human blood group systems|human blood groups]] published under the title "The [[agglutination]] phenomenon of normal human [[blood]]".<ref name="TanGraham2013">{{cite journal|last1=Tan|first1=SY|last2=Graham|first2=C|title=Karl Landsteiner (1868–1943): Originator of ABO blood classification|journal=Singapore Medical Journal|volume=54|issue=5|year=2013|pages=243–244|issn=00375675|doi=10.11622/smedj.2013099}}</ref><ref>{{cite journal|title=Commentary on and reprint of Landsteiner K, Ueber Agglutinationserscheinungen normalen menschlichen Blute [On the agglutination of normal human blood], in Wiener Klinische Wochenschrift (1901) 14:1132–1134|year=2000|pages=769–775|doi=10.1016/B978-012448510-5.50165-5}}</ref>
*W. Schulz applied the findings of Karl Landsteiner. He cross-matched [[blood]] before he transfused it and noted that [[agglutination]] and subsequent [[Blood transfusion|transfusion]] resulted in a severe [[Collapse (medical)|collapse]], while a negative [[cross-matching]] without [[agglutination]] did not have the same result.<ref>{{cite book | last = Eckhardt | first = Christian | title = Transfusionsmedizin : Grundlagen · Therapie · Methodik | publisher = Springer Berlin Heidelberg Imprint Springer | location = Berlin, Heidelberg | year = 1988 | isbn = 9783662106020 }}</ref>
*Reuben Ottenberg and David J. Kaliski improved the [[cross-matching]] of W. Schulz to avoid [[Blood transfusion|transfusion]]-related [[Adverse effect (medicine)|adverse reactions]] and proposed the major and minor test.<ref name="OttenbergKaliski2009">{{cite journal|last1=Ottenberg|first1=Reuben|last2=Kaliski|first2=David|title=Die Gefahren der Transfusionen und deren Verhütung|journal=DMW - Deutsche Medizinische Wochenschrift|volume=39|issue=46|year=2009|pages=2243–2247|issn=0012-0472|doi=10.1055/s-0028-1128886}}</ref>
*In 1916, Thomas Addis reported that the [[coagulation]] time of hemophilic [[blood]] reduced after the [[Intravenous therapy|intravenous infusion]] of fresh human [[serum]].<ref name="Addis1916">{{cite journal|last1=Addis|first1=T.|title=The effect of intravenous injections of fresh human serum and of phosphated blood, on the coagulation time of the blood in hereditary hemophila|journal=Experimental Biology and Medicine|volume=14|issue=1|year=1916|pages=19–23|issn=1535-3702|doi=10.3181/00379727-14-14}}</ref>
*In 1935, W.M. Bendien and S. Van Creveld [[Publication|published]] their work on the isolation and [[Intravenous therapy|intravenous]] or [[Intramuscular injection|intramuscular]] administration of a “[[coagulation]]-promoting” substance which in 1934 they demonstrated as a “dispersed [[protein]]” fraction obtained from [[serum]]. They proposed that this “[[coagulation]]-promoting” substance, which was low on [[protein]], had the ability to decrease the [[coagulation]] time of hemophilic [[blood]] to within normal values.<ref name="CreveldJordan2009">{{cite journal|last1=Creveld|first1=S.|last2=Jordan|first2=F. L. J.|last3=Punt|first3=K.|title=Deficiency ot Anti-Hemophilic Factor in a Woman, Combined with a Disturbance in Vascular Function.1|journal=Acta Medica Scandinavica|volume=151|issue=5|year=2009|pages=381–389|issn=00016101|doi=10.1111/j.0954-6820.1955.tb10306.x}}</ref><ref name="Bendien1937">{{cite journal|last1=Bendien|first1=W. M.|title=INVESTIGATIONS ON HEMOPHILIA|journal=Archives of Pediatrics & Adolescent Medicine|volume=54|issue=4|year=1937|pages=713|issn=1072-4710|doi=10.1001/archpedi.1937.01980040017002}}</ref>


===Evolution of the Treatment Strategies===
{| style="border: 0px; font-size: 90%; margin: 3px; width:650px"
| valign="top" |
|+
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Year}}
! style="background: #4479BA; width: 370px;" | {{fontcolor|#FFF|Therapy}}
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1840
| style="padding: 5px 5px; background: #F5F5F5;" |
*First successful [[Blood transfusion|transfusion of whole blood]]<ref name="Lane1840">{{cite journal|last1=Lane|first1=Samuel|title=HÆMORRHAGIC DIATHESIS.|journal=The Lancet|volume=35|issue=896|year=1840|pages=185–188|issn=01406736|doi=10.1016/S0140-6736(00)40031-0}}</ref>
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" align="center" |1911
| style="padding: 5px 5px; background: #F5F5F5;" |
*Identification of [[globulin]] fraction from [[Blood plasma|plasma]] which reduced the [[coagulation]] time of hemophilic [[blood]]<ref name="Addis1911">{{cite journal|last1=Addis|first1=T.|title=The pathogenesis of hereditary hæmophilia|journal=The Journal of Pathology and Bacteriology|volume=15|issue=4|year=1911|pages=427–452|issn=0368-3494|doi=10.1002/path.1700150402}}</ref>


*[[Hemophilia]] was first discovered by Al-Zahrawi-Albucaisi, a physcian, in 936-1013 AD.
|-
* His description corresponds with haemophilia.He described following points:  
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1916
** His terminology was indicative of the real cause of the disease.
| style="padding: 5px 5px; background: #F5F5F5;" |
** He described inherited pattern of disease as it was in only one village.
*[[Intravenous therapy|Intravenous infusion]] of fresh human [[serum]] reduced the [[coagulation]] time of hemophilic [[blood]]<ref name="Addis1916">{{cite journal|last1=Addis|first1=T.|title=The effect of intravenous injections of fresh human serum and of phosphated blood, on the coagulation time of the blood in hereditary hemophila|journal=Experimental Biology and Medicine|volume=14|issue=1|year=1916|pages=19–23|issn=1535-3702|doi=10.3181/00379727-14-14}}</ref>
** He tried to find a former description of the disease in some ancient physicians, but we found nothing.
|-
** He noticed the limitation of the disease to males and their boys.  
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1934
** He characterized the disease with easy bleeding after minor traumas which is nowadays considered the primal symptom of the disease.
| style="padding: 5px 5px; background: #F5F5F5;" |
** He admitted that he didn't know the cause of the disease which was impossible to be discovered in his time. 
*Russell’s viper [[venom]] (“Stypen”) was first used for the local control of [[bleeding]] in [[Patient|patients]] with [[hemophilia A]], [[bleeding diathesis]], and in healthy controls<ref name="MacfarlaneBarnett1934">{{cite journal|last1=Macfarlane|first1=R.G.|last2=Barnett|first2=Burgess|title=THE HÆMOSTATIC POSSIBILITIES OF SNAKE-VENOM|journal=The Lancet|volume=224|issue=5801|year=1934|pages=985–987|issn=01406736|doi=10.1016/S0140-6736(00)43846-8}}</ref>
** He recommended using the cauterization of the bleeding place until the vessels stop bleeding.


* In 1803, an American physicain,Dr. John Conrad Otto, published an account about "a hemorrhagic disposition existing in certain families" in the "New York Medical Repository".
|-
* He recognized that the disorder was hereditary and it affected only males.  
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1935
* The disorder was transmitted by unaffected females to a proportion of their sons.  
| style="padding: 5px 5px; background: #F5F5F5;" |
* He was able to trace the disease back to a woman who settled near Plymouth, New Hampshire in 1720 AD. These accounts
*A “[[coagulation]]-promoting” substance isolated from normal [[Blood plasma|plasma]] reduced the [[coagulation]] time of hemophilic [[blood]] to within normal values when administered [[Intravenous therapy|intravenously]] or [[Intramuscular injection|intramuscularly]]<ref name="CreveldJordan2009">{{cite journal|last1=Creveld|first1=S.|last2=Jordan|first2=F. L. J.|last3=Punt|first3=K.|title=Deficiency ot Anti-Hemophilic Factor in a Woman, Combined with a Disturbance in Vascular Function.1|journal=Acta Medica Scandinavica|volume=151|issue=5|year=2009|pages=381–389|issn=00016101|doi=10.1111/j.0954-6820.1955.tb10306.x}}</ref><ref name="Bendien1937">{{cite journal|last1=Bendien|first1=W. M.|title=INVESTIGATIONS ON HEMOPHILIA|journal=Archives of Pediatrics & Adolescent Medicine|volume=54|issue=4|year=1937|pages=713|issn=1072-4710|doi=10.1001/archpedi.1937.01980040017002}}</ref>
began to define a clinical syndrome on which the 19th century developed an extensive
|-
literature.
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1936
* The recent rather strange name 'haemophilia' which means 'love of blood' appeared in the title of Hopff's treatise of 1828 published at the University of Zurich.
| style="padding: 5px 5px; background: #F5F5F5;" |
*First evidence of a [[Precipitation (chemistry)|precipitate]] of whole [[blood plasma]] to correct [[bleeding]] time of hemophilic [[blood]]<ref>{{cite journal|title=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|year=2000|pages=573–585|doi=10.1016/B978-012448510-5.50144-8}}</ref>


* In 1886, Sir Frederick Treves described the case haemophilia in the female from a first-cousin marriage.
|-
* In 1890, Konig describes the involvement of joints as the most characteristic symptom of
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1946
haemophilia.  
| style="padding: 5px 5px; background: #F5F5F5;" |
*"Antihemophilic globulin" introduced as a term<ref name="pmid16695264">{{cite journal |vauthors=Minot GR, Davidson CS, Lewis JH, Tagnon HJ, Taylor FH |title=THE COAGULATION DEFECT IN HEMOPHILIA: THE EFFECT, IN HEMOPHILIA, OF THE PARENTERAL ADMINISTRATION OF A FRACTION OF THE PLASMA GLOBULINS RICH IN FIBRINOGEN |journal=J. Clin. Invest. |volume=24 |issue=5 |pages=704–7 |date=September 1945 |pmid=16695264 |pmc=435506 |doi=10.1172/JCI101654 |url=}}</ref><ref name="pmid16695263">{{cite journal |vauthors=Taylor FH, Davidson CS, Tagnon HJ, Adams MA, Macdonald AH, Minot GR |title=STUDIES IN BLOOD COAGULATION: THE COAGULATION PROPERTIES OF CERTAIN GLOBULIN FRACTIONS OF NORMAL HUMAN PLASMA IN VITRO |journal=J. Clin. Invest. |volume=24 |issue=5 |pages=698–703 |date=September 1945 |pmid=16695263 |pmc=435505 |doi=10.1172/JCI101653 |url=}}</ref>
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1953
| style="padding: 5px 5px; background: #F5F5F5;" |
*First [[Prothrombin complex concentrate|prothrombin complex concentrate (ACC 76®)]] is marketed by Behringwerke AG
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1958
| style="padding: 5px 5px; background: #F5F5F5;" |
*[[Hemophilia A]] prophylaxis begins in Sweden<ref name="NilssonBerntorp1992">{{cite journal|last1=Nilsson|first1=I. M.|last2=Berntorp|first2=E.|last3=Löfqvist|first3=T.|last4=Pettersson|first4=H.|title=Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B|journal=Journal of Internal Medicine|volume=232|issue=1|year=1992|pages=25–32|issn=09546820|doi=10.1111/j.1365-2796.1992.tb00546.x}}</ref>


*The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
|-
*In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1965
*In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
| style="padding: 5px 5px; background: #F5F5F5;" |
*The revolution in the treatment of hemophilia with [[cryoprecipitate]] <ref name="PoolShannon1965">{{cite journal|last1=Pool|first1=Judith Graham|last2=Shannon|first2=Angela E.|title=Production of High-Potency Concentrates of Antihemophilic Globulin in a Closed-Bag System|journal=New England Journal of Medicine|volume=273|issue=27|year=1965|pages=1443–1447|issn=0028-4793|doi=10.1056/NEJM196512302732701}}</ref>


==Outbreaks==
|}
There have been several outbreaks of [disease name], which are summarized below:
===Clotting Factor Concentrates and its Evolution to Modern Treatment===
{| style="border: 0px; font-size: 90%; margin: 3px; width:650px"
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! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF|Year}}
! style="background: #4479BA; width: 370px;" | {{fontcolor|#FFF|Therapy}}
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1981
| style="padding: 5px 5px; background: #F5F5F5;" |
*First [[Pasteurization|pasteurized]] [[factor VIII]] concentrate (Haemate® P) became available in Germany
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" align="center" |1990
| style="padding: 5px 5px; background: #F5F5F5;" |
*A highly purified [[Pasteurization|pasteurized]] [[factor VIII]] concentrate Beriate® P registered in Germany


==Landmark Events in the Development of Treatment Strategies==
|-
In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |1992
 
| style="padding: 5px 5px; background: #F5F5F5;" |
==Impact on Cultural History==
*The first recombinant [[factor VIII]] product is introduced and registered
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align="center" |2004 - current
| style="padding: 5px 5px; background: #F5F5F5;" |
*Developmental breakthroughs in the recombinant [[factor VIII]] products


|}
==Famous Cases==
==Famous Cases==
The following are a few famous cases of [[hemophilia]]:
Hemophilia has been called "the [[disease]] of the kings" or "the royal [[disease]]" as several members of the European royal family have been affected by it.<ref name="Ingram1976">{{cite journal|last1=Ingram|first1=G I|title=The history of haemophilia.|journal=Journal of Clinical Pathology|volume=29|issue=6|year=1976|pages=469–479|issn=0021-9746|doi=10.1136/jcp.29.6.469}}</ref>
===The Royal Hemophilia:===
The following are a few famous cases of hemophilia:
 
*The Queen of England, Queen Victoria (1837–1901), was a carrier of hemophilia and she passed it onto her son, Leopold, who died of a [[Intracranial hemorrhage|brain hemorrhage]] when he was 31.<ref name="Ingram1976">{{cite journal|last1=Ingram|first1=G I|title=The history of haemophilia.|journal=Journal of Clinical Pathology|volume=29|issue=6|year=1976|pages=469–479|issn=0021-9746|doi=10.1136/jcp.29.6.469}}</ref>
* In 19th and 20th centuries,  Queen Victoria,passed the mutation to various royal houses through two of her five daughters (Princess Alice and Princess Beatrice), across the continent, including:
*The [[disease]] spread to other royal families in Germany, Russia and Spain through Queen Victoria’s two daughters.
** The royal families of Spain
*The best known case of "the royal [[disease]]" was Tsarevich Alexei, son of the Russian Czar Nicholas II.
** Germany
** Russia
* Victoria's son Leopold suffered from the disease.
* The spread of hemophilia in the royal families of Europe played a crucial role in the development of medical knowledge about the disease.
* The condition was not reported among any of the Queen's antecedents, so that it was supposed that a mutation occurred at spermatogenesis in her father, Edward, Duke of Kent, a mischance perhaps made more likely by the fact that he was in his fifties when she was conceived.
===Hemophilia in the British Royalty:===
* William Hewson Leopold was severely affected and suffered numerous bleeding episodes.
** In 1868 the British Medical Journal noted a 'severe accidental haemorrhage' leading to 'extreme and dangerous exhaustion by the loss of blood' at the age of 15.
** In 1884, at the age of 30, he died of a [[cerebral hemorrhage]] after hitting his [[head]].
** In 1907, his daughter, Alice, had a hemophilic son, Rupert, Viscount Trematon, who died at 21, also of a [[cerebral hemorrhage]].
===Hemophilia in the German and Russian Royalty:===
* Alice, Victoria's third child, passed it on to at least three of her children:
** Prince Friedrich
** Princess Irene
** Princess Alix
** Princess Victoria
* Prince Friedrich Died before his third birthday of cerebral bleeding resulting from a fall.
* Princess Irene of Hesse and by Rhine (later Princess Heinrich of Prussia), who passed it on to two of her three sons: ** Prince Waldemar of Prussia. Survived to age 56;had no issue.
** Prince Heinrich of Prussia who died at age 4.
** Princess Alix of Hesse and by Rhine.
* Alix married Tsar Nicholas II of Russia and passed it on to her only son, Tsarevitch Alexei who was murdered by the
Bolsheviks at the age of 13.
* Alexei's haemophilia was one of the factors contributing to the collapse of Imperial Russia during the Russian Revolution of 1917.
* The illness of the Tsarevich cast its shadow over the whole of the concluding period of Tsar Nicholas II's reign and alone can explain it.
* Without appearing to be, it was one of the main causes of his fall, for it made possible the phenomenon of Rasputin (1869-1016) and resulted in the fatal isolation of the sovereigns who lived in a world apart and wholly absorbed in a tragic anxiety which had to be concealed from all eyes.
* Rasputin used hypnosis to relieve pain and/or slow hemorrhages, and sent away
* It is not known whether any of Alexei's sisters were carriers, as all four were executed with him before any of them had issue.
* One, Grand Duchess Maria, is thought by some to have been a symptomatic carrier, because she hemorrhaged during a
tonsillectomy.
* Princess Victoria of Hesse and by Rhine, Alice's oldest child and maternal grandmother to Prince Philip, Duke of Edinburgh, might have inherited the mutation, though the gene remained hidden for several generations before reappearing in the descendants of her eldest granddaughter, Princess Margarita of Greece and Denmark.
===Hemophilia in the Spanish Royalty:===
* Princess Beatrice, Victoria's ninth and last child, passed it on to at least two, if not three, of her children:
** Princess Victoria Eugenie
** Prince Leopold
** Prince Maurice
* Princess Victoria Eugenie of Battenberg (later Queen Victoria Eugenia of Spain), who passed it on to Infante Alfonso and Infante Gonzalo.
* Infante Alfonso of Spain, Prince of Asturiaswho died at age 31, bleeding to death after a car accident whereas Infante Gonzalo who died at age 19, bleeding to death after a car accident.
* Prince Leopold of Battenberg. Later Lord Leopold Mountbatten. Died at age 32 during a knee operation.
* Prince Maurice of Battenberg who killed in action in World War I in 1914 at the age of 23.
* Maurice's hemophilia is disputed by various sources. It seems unlikely that a known hemophiliac would be allowed to serve in combat.
 
===Hemophilia in the Last Century:===
* In 1905, Paul Oskar Morawitz (1879-1936) assembled coagulation factors into the scheme of coagulation.
* He demonstrated the role of calcium (Factor IV) and tissue thromboplastin (Factor III), prothrombin (Factor II)
in conversion to thrombin, which in turn converted fibrinogen (Factor I) into a fibrin clot.
** He introduced his landmark theory in Ergebn Physiol magazine.
**  This theory persisted for 40 years.
* In 1944until Paul Owren, , discovered a bleeding patient who defied the four- factor concept of clotting.
* Owren observed a cofactor that was involved in the conversion of prothrombin to thrombin. Thus factor V was discovered.
 
* Many reputable scientists claimed early success in treating with unusual substances.
* In 1936 A report in The Lancet  extolled the virtues of a bromide extract of egg white.
* As recently as 1966, a report in the esteemed scientific journal Nature claimed that peanut flour was also effective for the treatment of hemophilia.
*  The first hint of success came with the report from R.G. Macfarlane in 1934 that snake venoms could accelerate the clotting of haemophilic blood, and he reported success in controlling superficial bleeds in people with hemophilia after topical application.
* Factor VIII was discovered in 1937 by American researchers A.J. Patek and F.H.L. Taylor.
* They found that intravenous administration of plasma precipitates shortens blood clotting time.
* Taylor later calls the precipitates anti- hemophilic globulin.
* In 1939, American pathologist Kenneth Brinkhous showed that people with hemophilia have a deficiency in the plasma factor he later called anti- hemophilic factor.
In 1952, Loeliger named this factor VII.
* Buenos Aires physician Pavlovsky reported that the blood from some hemophiliac patients corrected the abnormal clotting time in others.
* In 1952, Rosemary Biggs from Oxford U.K. calls it Christmas disease, named for the first patient, Stephen Christmas. The clotting factor was called Christmas factor or factor IX.
* Factor XI deficiency was described in 1953 as a milder bleeding tendency.
* In 1955, Ratnoff and Colopy identified a patient, John Hageman, with a factor XII deficiency who died from a thrombotic stroke, not a bleeding disease.
* Factor X deficiency was described in 1957 in a woman named Prower and a man named Stuart.
 
* In 1960, Duckert described patients who had a bleeding disorder and characteristic delayed wound healing. This fibrin stabilizing factor was called factor XIII.
* In the early days, treatment of hemophilia A patients consisted of giving whole blood units to relieve symptoms.
*  Not until 1957 was it realized that the deficient coagulation protein was a component of the plasma portion of blood.
* In 1958, Inga Marie Nilsson, a Swedish physician, begins prophylaxis in treatment of boys with severe hemophilia A.
* Regular prophylactic treatment does not begin until the early 1970s.
* The World Federation of Haemophilia was established in 1963.
* Cryoprecipitate, a plasma derivative, was discovered by Dr. Judith Pool in
1964.
* This product is produced as an insoluble precipitate that results when a unit of fresh frozen plasma is thawed in a standard blood bank refrigerator.
** Cryoprecipitate contains fibrinogen, factor VIII, and vWF.
** This product is extracted from plasma and usually pooled before it is given to the patient according to weight and level of factor
VIII.
** This product presented a major breakthrough for the hemophilia population because it was an easily transfusable product affording the maximum level of factor to the individual.
** Next in the chronology of treatment products for hemophilia was clotting factor products. These freeze-dried products were developed in the early 1970s.
** The products were lyophilized and freeze dried and could be reconstituted and infused at
home.
** This treatment offered the hemophilia population an independence that they had never previously experienced. Finally they were in control because they could self- infuse when necessary and provide themselves with prompt care when a bleeding episode developed.
* Another landmark was the recognition by Italian Prof. Pier Mannucci in 1977 that desmopressin (DDAVP) could boost levels of both factor VIII and von Willebrand factor, and this remains a useful option in mild forms of these conditions.
* But a dark cloud loomed over the bleeding community.
* Approximately 80% to 90% of hemophilia A patients treated with factor concentrates in the period 1979- 1985 became infected with the HIV virus.
** Factor concentrates were made from pooled plasma from a donor pool that was less than adequately screened.
* Additionally, manufacturing companies were less than stringent with sterilization methods and screening for HIV virus did not occur in blood banks until 1985.
*  When each of these factors is brought to bear, the tragedy to the bleeding community is easily understood.
*  According to the National Hemophilia Foundation, there are 17,000 to 18,000 hemophilia patients (hemophilia A and B) in the United States.
* Of those, 4200 in the United States and about 1200 in the UK are infected with HIV/AIDS. There are no numbers available for wives or children who could have been secondarily infected.
* The hepatitis C virus (HCV) was first identified in 1989, and it soon became clear that an even higher proportion of people with hemophilia had been exposed to this virus.
* Fortunately, the introduction of physical treatments of concentrates such as exposure to heat or the addition of a solvent-detergent mixture has effectively eliminated the risk of the transmission of these viruses.
* The structure of the factor VIII gene was characterized and cloned in 1984.
* This led to the availability of recombinant factor VIII Recombinant products became available in 1989 and represent the highest purity product because they are not human derived.
* Recombinant technology uses genetic engineering to insert a clone of the factor VIII gene into mammalian cells, which express the gene characteristic.
* Production expenses for this product are unfortunately the most costly, and these costs are passed on to potential users. Most individuals with hemophilia in the United States use factor concentrates prophylactically.
10 Life expectancy of a child growing up with
haemophilia today is comparable to that of someone without a bleeding disorder.
* In 1998, Gene therapy trials on humans began. In the future, gene therapy is considered a realistic goal.
 
==References==
{{Reflist|2}}
 
{{WH}}
{{WS}}
[[Category: (name of the system)]]
 
 
 
 
 
==Historical Perspective==
===Scientific Discovery<ref name="Wikipedia">{{cite web | title = Hemophilia wikipedia| url =https://en.wikipedia.org/w/index.php?title=Haemophilia&action=edit }}</ref>===
*The first evidence of hemophilia is in the Talmud, Jewish holy text, which states that males did not have to be circumcised if two brothers had already died from the procedure.
*In the 12th century, the Arab physician Albucasis wrote of a family whose males died of bleeding after minor injuries. 
*In 1803, Dr. John Conrad Otto, a Philadelphia physician, wrote an account about "a hemorrhagic disposition existing in certain families." He recognised that the disorder was hereditary and that it affected males and rarely females. He was able to trace the disease back to a woman who settled near Plymouth in 1720. His paper was the second paper to describe important characteristics of an X-linked genetic disorder (the first paper being a description of colour blindness by John Dalton who studied his own family). 
*The idea that affected males could pass the trait onto their unaffected daughters was not described until 1813 when John Hay published an account in [[The New England Journal of Medicine]]. 
*The first usage of the term "hemophilia" appears in a description of the condition written by Hopff at the University of Zurich in 1828.<ref>{{cite web |url=http://www.hemophilia.ca/en/2.1.2.php |title=The History of haemophilia |accessdate=2007-06-27 |format= |work=}}</ref>  
*In 1937, Patek and Taylor, two doctors from Harvard, discovered [[Factor VII|anti-hemophilic globulin]].
*Pavlosky, a doctor from Buenos Aires, found [[Hemophilia A]] and [[Hemophilia B]] to be separate diseases by doing a lab test.
*This test was done by transferring the blood of one hemophiliac to another hemophiliac. The fact that this corrected the clotting problem showed that there was more than one form of hemophilia.
*In 1924, a Finnish doctor discovered a hereditary bleeding disorder similar to hemophilia localised in the "Åland Islands", southwest of Finland. This bleeding disorder is called "Von Willebrand Disease".
===European Royalty===
Queen Victoria passed hemophilia on to many of her descendants.
 
*Hemophilia has featured prominently in European royalty and thus is sometimes known as 'the royal disease'. Queen Victoria passed the mutation for hemophilia B to her son Leopold and, through some of her daughters, to various royals across the continent, including the royal families of Spain, Germany and Russia. In Russia, Tsarevich Alexei Nikolaevich son of Nicholas II, was a descendant of Queen Victoria through his mother Empress Alexandra and suffered from hemophilia.<ref>{{cite news|author= Michael Price|title=Case Closed: Famous Royals Suffered From Hemophilia|url= http://sciencenow.sciencemag.org/cgi/content/full/2009/1008/2|newspaper=ScienceNOW Daily News|publisher= AAAS|date=8 October 2009|accessdate=9 October 2009}}</ref><ref>{{cite web|author=Evgeny I. Rogaev et al.|title=Genotype Analysis Identifies the Cause of the "Royal Disease"|url= http://www.sciencemag.org/cgi/content/abstract/1180660|publisher=Science|date=8 October 2009|accessdate=9 October 2009}}</ref>
 
*It was claimed that Rasputin was successful at treating Tsarevich Alexei's hemophilia. At the time, a common treatment administered by professional doctors was to use [[aspirin]], which worsened rather than lessened the problem. It is believed that, by simply advising against the medical treatment, Rasputin could bring visible and significant improvement to the condition of Tsarevich Alexei.
 
*In Spain, Queen Victoria's youngest daughter, Princess Beatrice, had a daughter Victoria Eugenie of Battenberg, who later became Queen of Spain. Two of her sons were hemophiliacs and both died from minor car accidents. Her eldest son, Prince Alfonso of Spain, Prince of Asturias, died at the age of 31 from internal bleeding after his car hit a telephone booth. Her youngest son, Infante Gonzalo, died at age 19 from abdominal bleeding following a minor car accident where he and his sister hit a wall while avoiding a cyclist. Neither appeared injured or sought immediate medical care and Gonzalo died two days later from internal bleeding.
 
===Blood contamination issues===
*Ryan White was an American hemophiliac who became infected with [[HIV/AIDS]] through contaminated blood products.
 
*Prior to 1985, there were no laws enacted within the U.S. to screen blood. As a result, many people with hemophilia who received untested and unscreened clotting factor prior to 1992 were at an extreme risk for contracting [[HIV]] and [[hepatitis C ]]via these blood products. It is estimated that more than 50% of the haemophilia population, i.e. over 10,000 people, contracted [[HIV]] from the tainted blood supply in the United States alone.
 
*As a direct result of the contamination of the blood supply in the late 1970s and early/mid-1980s with viruses such as [[hepatitis]] and [[HIV]], new methods were developed in the production of clotting factor products. The initial response was to heat-treat (pasteurized) plasma-derived factor concentrate, followed by the development of monoclonal factor concentrates, which use a combination of heat treatment and affinity [[chromatography]] to inactivate any viral agents in the pooled plasma from which the factor concentrate is derived. The Lindsay Tribunal in Ireland investigated, among other things, the slow adoption of the new methods.


==References==
==References==

Latest revision as of 20:42, 24 October 2019

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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 19th century. 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 suspected 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 with the title "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 the 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 normal prothrombin content.[13]
  • In 1939, Brinkhous et al. confirmed A.J. Quick's findings and showed that the hemophilic blood has a delayed prothrombin conversion rate.[14]
  • In 1947, A.j. Quick and K.M. Brinkhous independently demonstrated that the antihemophilic globulin and platelets react together in a fashion to generate thromboplastin. They also proposed that a deficiency in antihemophilic globulin caused defective coagulation due to defects in the generation of thromboplastin.[15][14]

Landmark Events in the Development of Treatment Strategies

Transfusion Medicine

Evolution of the Treatment Strategies
Year Therapy
1840
1911
1916
1934
1935
1936
1946
  • "Antihemophilic globulin" introduced as a term[27][28]
1953
1958
1965

Clotting Factor Concentrates and its Evolution to Modern Treatment
Year Therapy
1981
1990
1992
  • The first recombinant factor VIII product is introduced and registered
2004 - current
  • Developmental breakthroughs in the recombinant factor VIII products

Famous Cases

Hemophilia has been called "the disease of the kings" or "the royal disease" as several members of the European royal family have been affected by it.[31] The following are a few famous cases of hemophilia:

  • The Queen of England, Queen Victoria (1837–1901), was a carrier of hemophilia and she passed it onto her son, Leopold, who died of a brain hemorrhage when he was 31.[31]
  • The disease spread to other royal families in Germany, Russia and Spain through Queen Victoria’s two daughters.
  • The best known case of "the royal disease" was Tsarevich Alexei, son of the Russian Czar Nicholas II.

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 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.
  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.
  8. ↑ 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.
  9. ↑ 9.0 9.1 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.
  10. ↑ 10.0 10.1 10.2 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.
  11. ↑ "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.
  12. ↑ 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.
  13. ↑ 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.
  14. ↑ 14.0 14.1 Brinkhous, K. M. (1947). "Clotting Defect in Hemophilia: Deficiency in a Plasma Factor Required for Platelet Utilization". Experimental Biology and Medicine. 66 (1): 117–120. doi:10.3181/00379727-66-16003. ISSN 1535-3702.
  15. ↑ QUICK AJ (September 1947). "Studies on the enigma of the hemostatic dysfunction of hemophilia". Am. J. Med. Sci. 214 (3): 272–80. PMID 20263163.
  16. ↑ 16.0 16.1 Lane, Samuel (1840). "HÆMORRHAGIC DIATHESIS". The Lancet. 35 (896): 185–188. doi:10.1016/S0140-6736(00)40031-0. ISSN 0140-6736.
  17. ↑ Bergmann, E. v. (2013). Die Schicksale der Transfusion im Letzten Decennium : Rede, Gehalten zur Feier des Stiftungstages der Militärärztlichen Bildungsanstalten am 2. August 1883. Berlin: Springer Berlin Heidelberg. ISBN 9783642619298.
  18. ↑ Ringer, Sydney (1882). "Regarding the Action of Hydrate of Soda, Hydrate of Ammonia, and Hydrate of Potash on the Ventricle of the Frog's Heart". The Journal of Physiology. 3 (3–4): 195–202. doi:10.1113/jphysiol.1882.sp000095. ISSN 0022-3751.
  19. ↑ Tan, SY; Graham, C (2013). "Karl Landsteiner (1868–1943): Originator of ABO blood classification". Singapore Medical Journal. 54 (5): 243–244. doi:10.11622/smedj.2013099. ISSN 0037-5675.
  20. ↑ "Commentary on and reprint of Landsteiner K, Ueber Agglutinationserscheinungen normalen menschlichen Blute [On the agglutination of normal human blood], in Wiener Klinische Wochenschrift (1901) 14:1132–1134". 2000: 769–775. doi:10.1016/B978-012448510-5.50165-5.
  21. ↑ Eckhardt, Christian (1988). Transfusionsmedizin : Grundlagen · Therapie · Methodik. Berlin, Heidelberg: Springer Berlin Heidelberg Imprint Springer. ISBN 9783662106020.
  22. ↑ Ottenberg, Reuben; Kaliski, David (2009). "Die Gefahren der Transfusionen und deren Verhütung". DMW - Deutsche Medizinische Wochenschrift. 39 (46): 2243–2247. doi:10.1055/s-0028-1128886. ISSN 0012-0472.
  23. ↑ 23.0 23.1 Addis, T. (1916). "The effect of intravenous injections of fresh human serum and of phosphated blood, on the coagulation time of the blood in hereditary hemophila". Experimental Biology and Medicine. 14 (1): 19–23. doi:10.3181/00379727-14-14. ISSN 1535-3702.
  24. ↑ 24.0 24.1 Bendien, W. M. (1937). "INVESTIGATIONS ON HEMOPHILIA". Archives of Pediatrics & Adolescent Medicine. 54 (4): 713. doi:10.1001/archpedi.1937.01980040017002. ISSN 1072-4710.
  25. ↑ Macfarlane, R.G.; Barnett, Burgess (1934). "THE HÆMOSTATIC POSSIBILITIES OF SNAKE-VENOM". The Lancet. 224 (5801): 985–987. doi:10.1016/S0140-6736(00)43846-8. ISSN 0140-6736.
  26. ↑ "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.
  27. ↑ Minot GR, Davidson CS, Lewis JH, Tagnon HJ, Taylor FH (September 1945). "THE COAGULATION DEFECT IN HEMOPHILIA: THE EFFECT, IN HEMOPHILIA, OF THE PARENTERAL ADMINISTRATION OF A FRACTION OF THE PLASMA GLOBULINS RICH IN FIBRINOGEN". J. Clin. Invest. 24 (5): 704–7. doi:10.1172/JCI101654. PMC 435506. PMID 16695264.
  28. ↑ Taylor FH, Davidson CS, Tagnon HJ, Adams MA, Macdonald AH, Minot GR (September 1945). "STUDIES IN BLOOD COAGULATION: THE COAGULATION PROPERTIES OF CERTAIN GLOBULIN FRACTIONS OF NORMAL HUMAN PLASMA IN VITRO". J. Clin. Invest. 24 (5): 698–703. doi:10.1172/JCI101653. PMC 435505. PMID 16695263.
  29. ↑ Nilsson, I. M.; Berntorp, E.; Löfqvist, T.; Pettersson, H. (1992). "Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B". Journal of Internal Medicine. 232 (1): 25–32. doi:10.1111/j.1365-2796.1992.tb00546.x. ISSN 0954-6820.
  30. ↑ Pool, Judith Graham; Shannon, Angela E. (1965). "Production of High-Potency Concentrates of Antihemophilic Globulin in a Closed-Bag System". New England Journal of Medicine. 273 (27): 1443–1447. doi:10.1056/NEJM196512302732701. ISSN 0028-4793.
  31. ↑ 31.0 31.1 Ingram, G I (1976). "The history of haemophilia". Journal of Clinical Pathology. 29 (6): 469–479. doi:10.1136/jcp.29.6.469. ISSN 0021-9746.

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