Hemophilia

Please add people who have died of Hemophilia or a complication of it.

Haemophilia, also spelled hemophilia, is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding longer after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain. Those with a mild case of the disease, may only have symptoms after an accident or during surgery. Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches, seizures, or a decreased level of consciousness.

Hemophilia A, also called factor VIII (FVIII) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII, a clotting protein. Although it is passed down from parents to children, about 1/3 of cases are caused by a spontaneous mutation, a change in a gene.

According to the US Centers for Disease Control and Prevention, hemophilia occurs in approximately 1 in 5,000 live births. There are about 20,000 people with hemophilia in the US. All races and ethnic groups are affected. Hemophilia A is four times as common as hemophilia B while more than half of patients with hemophilia A have the severe form of hemophilia.

There are two main types of haemophilia:

• haemophilia A, which occurs due to not enough clotting factor VIII, and
• haemophilia B, which occurs due to not enough clotting factor IX.

Genetics

• The X and Y chromosomes are called sex chromosomes. The gene for hemophilia is carried on the X chromosome. Hemophilia is inherited in an X-linked recessive manner. * Females inherit two X chromosomes, one from their mother and one from their father (XX). Males inherit an X chromosome from their mother and a Y chromosome from their father (XY). That means if a son inherits an X chromosome carrying hemophilia from his mother, he will have hemophilia. It also means that fathers cannot pass hemophilia on to their sons.
• But because daughters have two X chromosomes, even if they inherit the hemophilia gene from their mother, most likely they will inherit a healthy X chromosome from their father and not have hemophilia. A daughter who inherits an X chromosome that contains the gene for hemophilia is called a carrier. She can pass the gene on to her children.
• Hemophilia can occur in daughters, but is rare.
• For a female carrier, there are four possible outcomes for each pregnancy:
  • A girl who is not a carrier
  • A girl who is a carrier
  • A boy without hemophilia
  • A boy with hemophilia

Signs and symptoms of Hemophilia

• People with a mild deficiency may bleed in the case of trauma.
• People with a severe deficiency may bleed for no reason. This is called spontaneous bleeding.
• In children with hemophilia, these symptoms may occur around age 2.
• Spontaneous bleeding can cause the following:
  • blood in the urine
  • blood in the stool
  • deep bruises
  • large, unexplained bruises
  • excessive bleeding
  • bleeding gums
  • frequent nosebleeds
  • pain in the joints
  • tight joints
  • irritability (in children)
• Characteristic symptoms vary with severity. In general symptoms are internal or external bleeding episodes, which are called "bleeds".
• People with more severe haemophilia suffer more severe and more frequent bleeds, while people with mild haemophilia usually suffer more minor symptoms except after surgery or serious trauma.
• In cases of moderate haemophilia symptoms are variable which manifest along a spectrum between severe and mild forms.
• In both haemophilia A and B, there is spontaneous bleeding but a normal bleeding time, normal prothrombin time, normal thrombin time, but prolonged partial thromboplastin time. Internal bleeding is common in people with severe haemophilia and some individuals with moderate haemophilia.
• The most characteristic type of internal bleed is a joint bleed where blood enters into the joint spaces.
  • This is most common with severe haemophiliacs and can occur spontaneously (without evident trauma). If not treated promptly, joint bleeds can lead to permanent joint damage and disfigurement.
  • Bleeding into soft tissues such as muscles and subcutaneous tissues is less severe but can lead to damage and requires treatment.

What Are the Complications Associated with Hemophilia?

• Severe complications are much more common in cases of severe and moderate haemophilia.
• Complications may arise from the disease itself or from its treatment:
  • Deep internal bleeding, e.g. deep-muscle bleeding, leading to swelling, numbness or pain of a limb.
  • Joint damage from haemarthrosis (haemophilic arthropathy), potentially with severe pain, disfigurement, and even destruction of the joint and development of debilitating arthritis.
  • Transfusion transmitted infection, such as hepatitis, from blood transfusions that are given as treatment.
  • Adverse reactions to clotting factor treatment, including the development of an immune inhibitor which renders factor replacement less effective.
  • Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, nausea, loss of consciousness, brain damage, and death.

Prognosis

• Like most aspects of the disorder, life expectancy varies with severity and adequate treatment.
• People with severe haemophilia who don't receive adequate, modern treatment have greatly shortened lifespans and often do not reach maturity.
• Prior to the 1960s when effective treatment became available, average life expectancy was only 11 years. By the 1980s the life span of the average haemophiliac receiving appropriate treatment was 50–60 years. Today with appropriate treatment, males with haemophilia typically have a near normal quality of life with an average lifespan approximately 10 years shorter than an unaffected male.
• Since the 1980s the primary leading cause of death of people with severe haemophilia has shifted from haemorrhage to HIV/AIDS acquired through treatment with contaminated blood products.
• The second leading cause of death related to severe haemophilia complications is intracranial haemorrhage which today accounts for one third of all deaths of people with haemophilia.
• Two other major causes of death include hepatitis infections causing cirrhosis and obstruction of air or blood flow due to soft tissue haemorrhage.

Epidemiology

• Haemophilia is rare, with only about 1 instance in every 10,000 births (or 1 in 5,000 male births) for haemophilia A and 1 in 50,000 births for haemophilia B.
• About 18,000 people in the United States have haemophilia. Each year in the US, about 400 babies are born with the disorder.
• Haemophilia usually occurs in males and less often in females.
• It is estimated that about 2500 Canadians have haemophilia A, and about 500 Canadians have haemophilia B.
• Hemophilia A affects 1 in 5,000 male births. About 400 babies are born with hemophilia A each year.
• The exact number of people living with hemophilia in the United States is not known.
• A CDC study conducted in six states in 1994 estimated that about 17,000 people had hemophilia at that time. Currently, the number of people with hemophilia in the United States is estimated to be about 20,000, based on expected births and deaths since 1994.
• Current estimates show that more than 20,000 individuals in the US are hemophilic.
• Deaths from Hemophilia: 1,681 deaths for coagulation defects (NHLBI 1999)

History

The first medical professional to describe the disease was Abulcasis. In the tenth century he described families whose males died of bleeding after only minor traumas.[35] While many other such descriptive and practical references to the disease appear throughout historical writings, scientific analysis did not begin until the start of the nineteenth century.

In 1803, John Conrad Otto, a Philadelphian physician, wrote an account about "a hemorrhagic disposition existing in certain families" in which he called the affected males "bleeders".[36] He recognised that the disorder was hereditary and that it affected mostly males and was passed down by healthy females. 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). Otto was able to trace the disease back to a woman who settled near Plymouth, NH in 1720. The idea that affected males could pass the trait onto their unaffected daughters was not described until 1813 when John F. Hay, published an account in The New England Journal of Medicine.

In 1924, a Finnish doctor discovered a hereditary bleeding disorder similar to haemophilia localised in the Åland Islands, southwest of Finland.[39] This bleeding disorder is called "Von Willebrand Disease".

The term "haemophilia" is derived from the term "haemorrhaphilia" which was used in a description of the condition written by Friedrich Hopff in 1828, while he was a student at the University of Zurich. In 1937, Patek and Taylor, two doctors from Harvard, discovered anti-haemophilic globulin. In 1947, Pavlosky, a doctor from Buenos Aires, found haemophilia A and haemophilia B to be separate diseases by doing a lab test. This test was done by transferring the blood of one haemophiliac to another haemophiliac. The fact that this corrected the clotting problem showed that there was more than one form of haemophilia.

Haemophilia has featured prominently in European royalty and thus is sometimes known as 'the royal disease'. Queen Victoria passed the mutation for haemophilia B[42][43] to her son Leopold and, through two of her daughters, Alice and Beatrice, to various royals across the continent, including the royal families of Spain, Germany, and Russia. In Russia, Tsarevich Alexei, the son and heir of Tsar Nicholas II, famously suffered from haemophilia, which he had gotten from his mother, Empress Alexandra, one of Queen Victoria's granddaughters. The haeomphilia of Alexei would result in the rise to prominence of the Russian mystic Grigori Rasputin, at the imperial court.

It was claimed that Rasputin was successful at treating Tsarevich Alexei's haemophilia. 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 haemophiliacs 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 in which 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.

Prior to 1985, there were no laws enacted within the U.S. to screen blood. As a result, many people with haemophilia 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 (pasteurise) 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.

Famous People with Hemophilia or who died of Hemophilia:

1. The Missing Factor - Famous people with Hemophilia (9 people listed & 3 rumored to have)
2. Science - Case Closed: Famous Royals Suffered From Hemophilia
3. Wikipedia - Haemophilia in European royalty

• Queen Victoria (1819-1901) Queen of England (Hemophilia carrier; a series of strokes; intracerebral hemorrhage)
• Richard Burton (1925-1984) Actor (alcoholic; cerebral (brain haemorrhage); death of a stroke)
• Prince Leopold (1853-1884) Son of Queen Victoria (diagnosed with Haemophilia; died of brain hemorrhage following a fall)
• Ryan Wayne White (1971-1990) (diagnosed with Haemophilia; got AIDS from blood transfusion)
• Jesse Schrader (1979- ) Baseball player with diagnosis of Hemophilia A
• Barry Haarde ( ) (Cycling 4,000 miles for Hemophilia Awareness
• Alexandrea Borstein (1973- ) Actor, comedian, film writer
• Alex Dosett (1988- ) Racing cyclist (suffers from haemophilia)
• Alexei Nikolaevich, Tsarevich of Russia (1904-1918) Russian prince (diagnosed with hemophilia)

For Further Reading:

• National Hemophilia Foundation - Hemophilia A
• Wikipedia - Haemophilia
• Mayo Clinic - Hemophilia
• Health Line - Hemophilia, What is Hemophilia?
• National Heart, Lung, & Blood Institute - Living With Hemophilia
• Science - Case Closed: Famous Royals Suffered From Hemophilia
• CDC - Hemophilia Data & Statistics In the US

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