Running Head: HISTORY OF HEMOPHILIA AND TREATMENTS 1

The Evolution of Hemophilia and its Treatments

Abigail Collins

Youngstown State University

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What is Hemophilia?

Hemophilia is a disorder of the blood that causes longer bleeding times due to the fact

that the blood cannot clot properly (CDC, para. 1). This disease is rare and inherited. Hemophilia

can be broken into 3 sub types: A, B, or C. A and B subtypes are called X-linked recessive

disorders, meaning that the mother is the carrier and passes it onto male children. Female

children of carrier mothers of the A and B subtypes are also carriers and can have male children

that are affected. C is a different matter, however, it is referred to as an autosomal recessive

disorder. This means that both the mother and father of the child have to be a carrier of the

disease to have an affected child. A is a disorder of clotting factor VIII, B involves a deficiency

of clotting factor IX (Franchini, Mannucci, page 1), and C is a deficiency in clotting factor XI.

This deficiency results in an inability to control bleeding and many people with this disease have

died of fatal hemorrhaging (Ball, Bindler, Cowen, and Shaw, pg. 973). Hemophilia has been seen

throughout the ages, and as such the treatment of this disease has evolved with medical

breakthroughs and inventions.

Evolution of the disease

The first documentation of bleeding disorders was in the Jewish religious writings called

the Talmud. It stated in a section about laws and traditions that “baby boys did not have to be

circumcised if two of their brothers had previously died from the procedure” (National

Hemophilia Foundation, paragraph 1). In 1803, John Conrad Otto, a Philadelphia doctor,

published his observations about certain male patients he called “bleeders” (National Hemophilia

Foundation, paragraph 2). He found only certain families had the disease, but when he

interviewed the patients about their family tree, he found them to have a common ancestor. It

was not until 1828, that the disease was named by Dr. Scholein and his student Friedrich Hopff.
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They called it haemorrhaphilia which was later shortened to haemophilia (National Hemophilia

Foundation, paragraph 2). In 1944, Dr. Pavlosky conducted an experiment where he mixed the

blood of two types of hemophiliacs together. What the experiment yielded, was when mixed the

blood clotted. It was not until 1952, when professors R.A Biggs and A.S Douglas of Oxford,

together with hematologist Dr. Mcfarlane discovered that there were multiple types of

hemophilia, with each type having a different causation. At this point in time clotting factors

were still not discovered. So, while they recognized that there were multiple subtypes of

hemophilia with different causations and because of this discovery they figured out that this

cause was why Pavlosky’s experiment clotted, they did not know why it clotted exactly. Not

until the discovery of the different clotting factors and their effects on each subtype, did

Pavlosky’s results make sense. The blood in the experiment clotted because the sample blood

from patient that had two different types of hemophilia. This means that while one blood sample

was deficient in factors eight, nine, or eleven, the other blood sample had that factor and vice

versa making a normally functioning sample that is able to clot (Encyclopedia, page 3).

Hemophilia became a closely monitored disease once the British Royal Family acquired

the gene. It then became called the Royal Disease (Ingram, pg. 470). It all started with Queen

Victoria who became a carrier. She then passed it onto 3 children, Alice, and Beatrice, who were

carriers, and Leopold who was affected by the disease. Leopold died at age 31. Beatrice, a carrier

daughter, married Prince Henry of Germany and had 2 affected sons, and one carrier daughter.

Alice, the other carrier daughter, married Duke of Hesse, Louis the IV. She had an affected son

who died at age 3 and 2 carrier daughters. One daughter married the Prince of Prussia, while

Alix married the King of Russia, Tsar Nicholas II and changed her name to Alexandra (Ingram,

pg. 470). She gave birth to one of the most famous hemophiliacs in history, Prince/Tsarevich
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Alexei. Alexei had hemophilia B which led to the fateful and tumultuous royal relationship with

Rasputin. This family left no descendants as they were slaughtered in a political uprising in

1918, during the first World War. The current British Royal Family does not have the gene for

hemophiliac’s disease, as they are descended from an unaffected male ancestor (King Edward

the VII) of Queen Victoria (Ingram, pg. 472).

Treating Hemophilia

The lifespan of hemophiliacs was lengthened by new discoveries, but still too short. Life

expectancy in the early 1900’s was 13 and was lengthened to 20 by mid-1950’s. Due to the

unknown nature of the disease, most early treatments of hemophilia bordered on desperation.

The earliest documented treatment was in the Middle East. It “involved applying ashes to

external wounds to stop bleeding” (Encyclopedia, Page 4). In the 1900’s scientists found that

blood had types, which “made blood transfusions much more successful” (The Hemophilia, von

Willebrand Disease, and Platelet Disorders Handbook, page 1). In the 1940’s the use of ice, rest,

and splints was implemented for bleeding. This method of treatment is still used today, but only

if external injuries are present.

The first blood transfusion given as treatment for hemophilia was in 1840. Unfortunately

it faded as a treatment until the 1930’s since little was known about blood typing, reactions, or

clotting factors, that it was a hassle due to the fact that a donor had to be willing and ready on the

spot because of an inability to store blood, and that the blood given by itself did not have enough

clotting factors to be a significant replacement for the patient’s. Treatments during the 30’s was

the embodiment of the saying: throw everything and the kitchen sink. Doctors prescribed

everything from fasting for forty-eight hours, to cod oil, to snake venom – which actually

showed more promise than most –to brewer’s yeast (Encyclopedia, page 4).
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The doctors in the 50’s used fresh plasma from pigs and cows. This treatment did not

need cross-matched. Unfortunately, a quite common side-effect was an allergic reaction to the

product and this treatment still did not have enough clotting factor to significantly replace the

one missing from the patient’s blood. It was not until the mid-60’s, that Dr. Judith Grahm Pool

discovered that the process of thawing plasma can produce a layer of cryoprecipitate (The

Hemophilia, von Willebrand Disease, and Platelet Disorders Handbook, page 1). This was huge

in the medical community, because finally there was a treatment that did not overload the

circulatory system like large amounts of transfusions and was not as ridiculous as snake venom.

A downside to this was it took hours to produce and was a slow and tedious process on the

patients, but it allowed for less frequent emergency room visits.

In the early 70’s treatment evolved into factor concentrates, which was freeze-dried

powder of the missing factor needed for clotting (The Hemophilia, von Willebrand Disease, and

Platelet Disorders Handbook, page 1). This powder was made from human blood, which led to a

crisis when the AIDS/HIV epidemic hit in the 80’s and later when hepatitis C was discovered to

also be transmitted through blood. This resulted in “more than four thousand hemophiliacs

contracted AIDS and subsequently died from the very treatment designed to save their lives”

(Encyclopedia, page 5). This crisis rallied scientists to form the factor without using blood. This

method became known as recombinant DNA technology.

Treatments became safer in the 90’s as doctors used the recombinant treatment and

stricter screening protocols were put in place for blood donors. As research made its way into the

twenty-first century, newer and safer recombinant factor infused products were established, and

the medical community put into place a prophylaxis treatment regimen to limit the number of

hospital visits and stays (Midwest Hemophilia Association, Page 1).

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Today, doctors treat hemophiliac patients with an infusion of recombinant factor

concentrate to replace the missing coagulation factor. Another treatment would be a drug called

desmopressin or DDAVP, which is used in mild hemophiliac episode to release the protein that

carries the needed clotting factor. Pain is controlled with Ibuprofen or NSAIDs, but patients

should avoid aspirin at all costs. Cold therapy, bed rest, and immobilization is still a treatment

used today.

Nursing Care

A nurse’s role in the care of a hemophiliac patient is to provide a safe environment and

help teach the family/patient how to live with their disease. Teaching includes prophylaxis

management such as no contact sports, using a soft toothbrush, and using an electric razor

instead of a manual razor. One major part of living with hemophilia is recognizing and managing

bleeding episodes. This includes signs/complaints of joint pain, headaches, slurred speech, or a

loss of consciousness. Treatment would be to apply pressure for 10-15 minutes if there is

external bleeding, elevating, and immobilizing the injured body part, using ice, and self-

administration of replacement factor (Ball, Bindler, Cowen, and Shaw, pg. 473-475).

Conclusion

Hemophilia as a disease has come a long way from being an unknown disease that killed

anyone unlucky enough to have it. It became widely known with the British Royal Family and

the tragic story of the Romanov Royal Family. Treatments were so varied in history that they

ranged from chanting and religious treatment, as was the case with Alexei Romanov and the

priest Gregori Rasputin, to packing a wound with ashes, to snake venom. The discovery of

cryoprecipitate made huge headway into the evolution of current treatment of hemophilia,

unfortunately it took a long time to infuse cryoprecipitate and was tedious work. Freeze-dried
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powder of the missing factor was created using human blood, which came to a crashing halt

during the HIV/AIDS epidemic. Many hemophiliacs contracted and died from this disease.

Hepatitis C was another blood-born disease that risked the lives of everyone receiving blood.

This epidemic lead to the use of recombinant clotting factors and a strict screening of anyone

donating blood. This crisis pushed us to discover what is used to treat hemophiliacs today. A

mixture of prophylactic interventions and recombinant clotting factors. Hemophilia has come a

long way from being a faceless disease that killed boys by the age of thirteen, now patients can

experience a relatively normal life with a life expectancy only 10 years less than a healthy man

Henderson, May 2017, pages 3-4).

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Works Cited

Ball, J.W, Bindler, R.C, Cown, K.J, and Shaw, M.R (2019). Child Health Nursing: Partnering

with Children and Families (pp. 972-975). Pearson Education Inc.

Midwest Hemophilia Association (2020). History of Hemophilia.

https://midwesthemophilia.org/what-is-hemophilia-bleeding-disorders/history-of-

hemophilia/

National Hemophilia Foundation, (2020). History of Bleeding Disorders.

https://www.hemophilia.org/Bleeding-Disorders/History-of-Bleeding-Disorders.

The Hemophilia, von Willebrand Disease, and Platelet Disorders Handbook (2020). The History

of Hemophilia. https://www.hog.org/handbook/article/1/3/the-history-of-hemophilia

Ingram, G.I.C (June, 1976). The History of Hemophilia. Journal of Clinical Pathology, 29(6),

469-479. doi: 10.1136/jcp.29.6.469

Franchini, M. and Mannucci, P.M (July 2014), The History of Hemophilia. Semin Thromb

Hemost, 40(05), 571-576. DOI: 10.1055/s-0034-1381232.

Henderson, W. (31 May 2017). Prognosis and Life Expectancy for People Living With

Hemophilia. Hemophilia News Today.

https://hemophilianewstoday.com/2017/05/31/prognosis-life-expectancy-people-living-

hemophilia/

Center for Disease Control and Prevention (June 3, 2019). What is Hemophilia?

https://www.cdc.gov/ncbddd/hemophilia/facts.html

Encyclopedia (March, 20, 2020). Hemophilia Throughout History.

https://www.encyclopedia.com/science/medical-magazines/hemophilia-throughout-

history