History Haemophilia

1 history

1.1 scientific discovery
1.2 european royalty
1.3 blood contamination issues

history


john c. otto, 1803
scientific discovery

the first medical professional describe disease abulcasis. in tenth century described families males died of bleeding after minor traumas. while many other such descriptive , practical references disease appear throughout historical writings, scientific analysis did not begin until start of nineteenth century.

in 1803, john conrad otto, philadelphian physician, wrote account hemorrhagic disposition existing in families in called affected males bleeders . recognised disorder hereditary , affected males , passed down healthy females. paper second paper describe important characteristics of x-linked genetic disorder (the first paper being description of colour blindness john dalton studied own family). otto able trace disease woman settled near plymouth, nh in 1720. idea affected males pass trait onto unaffected daughters not described until 1813 when john f. hay, published account in new england journal of medicine.

in 1924, finnish doctor discovered hereditary bleeding disorder similar haemophilia localised in Åland islands, southwest of finland. bleeding disorder called von willebrand disease .

the term haemophilia derived term haemorrhaphilia used in description of condition written friedrich hopff in 1828, while student @ university of zurich. in 1937, patek , taylor, 2 doctors harvard, discovered anti-haemophilic globulin. in 1947, pavlosky, doctor buenos aires, found haemophilia , haemophilia b separate diseases doing lab test. test done transferring blood of 1 haemophiliac haemophiliac. fact corrected clotting problem showed there more 1 form of haemophilia.

european royalty


queen victoria passed haemophilia on many of descendants.

haemophilia has featured prominently in european royalty , known royal disease . queen victoria passed mutation haemophilia b son leopold and, through 2 of daughters, alice , beatrice, various royals across continent, including royal families of spain, germany, , russia. in russia, tsarevich alexei, son , heir of tsar nicholas ii, famously suffered haemophilia, had gotten mother, empress alexandra, 1 of queen victoria s granddaughters. haemophilia of alexei result in rise prominence of russian mystic grigori rasputin, @ imperial court.

it claimed rasputin successful @ treating tsarevich alexei s haemophilia. @ time, common treatment administered professional doctors use aspirin, worsened rather lessened problem. believed that, advising against medical treatment, rasputin bring visible , significant improvement condition of tsarevich alexei.

in spain, queen victoria s youngest daughter, princess beatrice, had daughter victoria eugenie of battenberg, later became queen of spain. 2 of sons haemophiliacs , both died minor car accidents. eldest son, prince alfonso of spain, prince of asturias, died @ age of 31 internal bleeding after car hit telephone booth. youngest son, infante gonzalo, died @ age 19 abdominal bleeding following minor car accident in , sister hit wall while avoiding cyclist. neither appeared injured or sought immediate medical care , gonzalo died 2 days later internal bleeding.

blood contamination issues


ryan white american haemophiliac became infected hiv/aids through contaminated blood products.

prior 1985, there no laws enacted within u.s. screen blood. result, many people haemophilia received untested , unscreened clotting factor prior 1992 @ extreme risk contracting hiv , hepatitis c via these blood products. estimated more 50% of haemophilia population in united states, i.e. on 10,000 people, contracted hiv tainted blood supply.

as direct result of contamination of blood supply in late 1970s , early/mid-1980s viruses such hepatitis , hiv, new methods developed in production of clotting factor products. initial response heat-treat (pasteurise) plasma-derived factor concentrate, followed development of monoclonal factor concentrates, use combination of heat treatment , affinity chromatography inactivate viral agents in pooled plasma factor concentrate derived. lindsay tribunal in ireland investigated, among other things, slow adoption of new methods.