What are some interesting facts about hemophilia?
- Hemophilia is a genetic disorder, inherited from the parental genes. ...
- The gene for hemophilia lies on the X chromosome, and it is of recessive nature. ...
- It is a well-known fact that the sex chromosomes of a female consists of XX chromosome and that of a male consists of XY chromosome. ...
What is the cure for hemophilia?
A Cure for Hemophilia?
- Defining Moments. “In my mind, the definition of a cure has changed significantly since our son was born,” says Richard Metz, MD, a Los Angeles primary care physician and father ...
- Beyond Biology. ...
- Small Steps Forward. ...
What is the treatment for acquired hemophilia?
International recommendations on the diagnosis and treatment of acquired hemophilia A
- Introduction. Acquired hemophilia A (AHA) is characterized by neutralizing autoantibodies, called inhibitors, against factor VIII (FVIII). ...
- Methods. ...
- Diagnosis. ...
- Hemostatic treatment. ...
- Immunosuppressive therapy. ...
- Acknowledgments. ...
- Footnotes. ...
- References. ...
What are the risk factors of hemophilia?
The complications of hemophilia include:
- joint damage from repetitive bleeding
- deep internal bleeding
- neurological symptoms from bleeding within the brain
When did they find a treatment for hemophilia?
Judith Graham Pool, a scientist and researcher, made a groundbreaking discovery in 1964 that changed the course of hemophilia treatment.
How was hemophilia cured?
There is currently no cure for hemophilia. Effective treatments do exist, but they are expensive and involve lifelong injections several times per week to prevent bleeding.
How was hemophilia treated in the past?
Some of the early treatments used for hemophilia included lime, bone marrow, oxygen, thyroid gland, hydrogen peroxide or gelatin. In the 1930s, snake venom was used to help blood clotting. Hospital-based plasma transfusions were common treatments for hemophiliacs in the late 1920s and continued until the 1950s.
Has hemophilia been cured?
There is currently no cure for hemophilia, a rare bleeding disorder.
When was hemophilia first discovered?
The first recorded mention of hemophilia came in the second century when a collection of ancient Jewish writings noted that baby boys did not need to be circumcised if two of their older brothers had bled to death following the procedure. Later in the 10th century, an Arabian doctor described cases of male members of the same family dying ...
What is hemophilia news?
Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment.
What did the Arabian doctor describe?
Later in the 10th century, an Arabian doctor described cases of male members of the same family dying from excessive bleeding after a trauma according to the National Hemophilia Foundation.
How old can a boy be with hemophilia?
At this point, the life expectancy for boys with hemophilia was around 13 years old. Some of the early treatments used for hemophilia included lime, bone marrow, oxygen, thyroid gland, hydrogen peroxide or gelatin. In the 1930s, snake venom was used to help blood clotting.
When did factor VIII and IX become available?
By the 1970s, freeze-dried powder formulas of factor VIII and IX were readily available, which meant hemophiliacs were able to self-administer the factor in their own homes. The rise of HIV and AIDS in the 1980s led to many people with hemophilia dying of AIDS and becoming HIV positive through contaminated blood products.
Who was the first person to discover the cause of bleeding disorder?
In 1803, Dr. John Conrad Otto from Philadelphia published a paper about a familial bleeding disorder that only affected male members. His research managed to trace the origin of the disease to a female relative who lived in New Hampshire in 1720.
What was the factor that was found in plasma thawing?
In 1965, Dr. Judith Graham Pool from Stanford University discovered that the precipitate (cryoprecipitate) left from thawing plasma was high in factor VIII. This could be infused to control heavy bleeding and blood banks were able to produce and store large amounts for use in surgical procedures for hemophiliacs.
When was hemophilia discovered?
The discovery of "antihemophilic globulin" in the middle of the 20th century paved the way to the production of cryoprecipitate and then of FVIII and FIX concentrates.
When did hemophilia first appear?
While the history of hemophilia dates back to the 2nd century AD, a modern description of hemophilia appeared only at the beginning of the 19th century.
What is hemophilia A and B?
Hemophilia A and B are rare inherited bleeding disorders characterized by the deficiency of coagulation factor VIII (FVIII) or factor IX (FIX). While the history of hemophilia dates back to the 2nd century AD, a modern description of hemophilia appeared only at the beginning of the 19th century.
Why were hemophilia A and VIII called Roman numerals?
But they knew very little about how blood clots. It was not until just before World War II that doctors learned that hemophilia A was caused by a problem with a protein in the blood, later called factor VIII. Eleven other blood factors were recognized in the 1950s. They were given Roman numeral names in 1961 to avoid confusion.
Who is the father of a son with hemophilia?
The fascinating story of this royal family is told in the book Nicholas and Alexandra by Robert Massie (the father of a son with hemophilia). Hemophilia research has come a long way. Around 1900, scientists found that human blood could be divided into groups or types. This made blood transfusions much more successful.
Why is hemophilia considered a royal disease?
This is because the hemophilia gene was passed from Queen Victoria, who became Queen of England in 1837, to the ruling families of Russia, Spain, and Germany. Queen Victoria's gene for hemophilia was caused by spontaneous mutation.
When was the first blood transfusion successful?
This made blood transfusions much more successful. In 1930, scientists learned how to separate blood into its major parts, plasma and red cells. In the early 1960s, Dr. Judith Graham Pool discovered a process of freezing and thawing plasma to get a layer of factor-rich plasma ( cryoprecipitate ).
What was Queen Victoria's gene?
Queen Victoria's gene for hemophilia was caused by spontaneous mutation. Of her children, one son, Leopold, had hemophilia, and two daughters, Alice and Beatrice, were carriers. Beatrice's daughter married into the Spanish royal family. She passed the gene to the male heir to the Spanish throne.
When was the first known type of hemophilia discovered?
The knowledge of hemophilia advanced in the mid-1900s with the discovery of another form of hemophilia called Christmas disease. Christmas disease is an alternate name for hemophilia B, named for a ten-year-old British boy, Stephen Christmas, who was the first recognized with this type of hemophilia. In 1952, R.A. Biggs, A.S. Douglas of Oxford University and Dr. Mcfarlane, a hematologist, published a paper describing Stephen Christmas's disease as different from hemophilia A, which before that time was thought to be the only type of hemophilia. They based their finding on previous work by a doctor in Argentina.
Who discovered the genetics of hemophilia?
Mendel, an Austrian monk train ed in physics, discovered the basic principles of genetics through his work with plants. He was not a well-known scientist of his day, and he worked alone to discover patterns of inheritance.
How did AIDS affect hemophiliacs?
The advent of AIDS, a noncurable disease that destroys the body's immune system, had a profound effect on the hemophiliac community. Because AIDS was a new, previously unknown disease, no one suspected that the nation's blood supply would become the vehicle for transmission of a deadly disease to patients requiring blood transfusions or blood products. Unfortunately, the AIDS virus was present in some of the blood used to make cryoprecipitate and the freeze-dried factor concentrates. These products were manufactured from human plasma, and the concentration of clotting factors necessary to stop the bleeding of a hemophiliac came from pooling the blood of multiple donors. Thus, every time a patient received a treatment, he was exposed to the blood of many people. At the time, there was no way to kill the virus in the donated blood. As a result, more than four thousand hemophiliacs contracted AIDS and subsequently died from the very treatment designed to save their lives.
What was the first breakthrough in hemophilia?
Judith Pool is credited with making the first major breakthrough in treating hemophilia A with concentrated amounts of factor VIII. Dr. Pool and her associates made the discovery in 1964 and 1965 that when frozen plasma is slowly thawed, it separates into layers. The bottom layer is rich in clotting factor VIII, the factor missing in type A hemophilia. This discovery was important because for the first time, sufficient amounts of the missing clotting factor could be administered without adding a large volume of fluid to the person's circulatory system and putting unnecessary strain on the heart. The new substance was named cryoprecipitate. Unlike giving whole blood transfusions, cryoprecipitate did not need to match a person's specific blood type. Administration required mixing the thawed plasma with a saline solution and giving it to the patient through a needle into a vein. Several of these small bags of cryoprecipitate were sometimes needed to stop the bleeding. George McCoy used this treatment before other methods were developed. "Before clotting concentrates were available, I used cryoprecipitate, which I kept at home in eight individual plastic bags. I would warm them in pans of water, hang them on an IV pole, self-infuse, and keep changing the bags. It was a long, slow, tedious process that took a few hours each time I needed to infuse." 16 The problem with the new treatment was that it sometimes contained viruses from the human donors, which could cause disease in the person receiving it. Despite this risk, the discovery of cryoprecipitate revolutionized the treatment of hemophilia and was considered a miraculous discovery.
What was Queen Victoria's connection to the disease?
The family connection seen in hemophilia received the most publicity during the reign of Queen Victoria of England (1837–1901). Her eighth child, Leopold, had hemophilia and suffered hemorrhages that occurred as often as once a month. Queen Victoria was very protective of Leopold, allowing him few normal activities during his childhood for fear of causing a hemorrhage. Despite the protection given him, he died at the age of thirty-one from a brain hemorrhage after a minor fall. Prior to Leopold's hemophilia , there was no known history of the disease in Queen Victoria's family, leading many historians to believe that Queen Victoria passed the disease because of spontaneous gene mutation. At the time, it was commonly believed the hemophilia in Queen Victoria's family was the result of a curse. Leopold's condition received much attention when it was reported in the British Medical Journal in 1868. Queen Victoria herself left a written account of her son's battle with hemophilia in correspondence with her prime minister, Benjamin Disraeli.
When was hemophilia first discovered?
John Conrad Otto recognized a bleeding condition was hereditary and affected males. He traced it back to a woman who settled near Plymouth, New Hampshire in 1720. 1828 – The word “Hemophilia” is first used to describe a bleeding disorder condition at the University of Zurich.
When was the first factor VIII approved?
About half of the U.S. population with hemophilia became HIV-infected and thousands would die. 1992 – The first recombinant factor VIII product was approved by the FDA. 1997 – The first factor IX product was granted FDA Approval.
Who was the first person to be diagnosed with von Willebrand disease?
See graphic below. 1925 – von Willebrand disease was first recognized by Finnish physician Erik von Willebrand.
What was the purpose of cryoprecipitate?
1965 – Dr. Judith Graham Pool found that cryoprecipitate contained a significant amount of factor that could be used to control severe bleeding. The need for high-volume whole plasma transfusions for people with hemophilia was eliminated.
How to treat hemophilia?
Treatment of Hemophilia. The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is typically done by injecting treatment products, called clotting factor concentrates, into a person’s vein. Clinicians typically prescribe treatment products for episodic care or prophylactic care.
What is the best treatment for hemophilia?
Often the best choice for care is at a comprehensive hemophilia treatment center (HTC). An HTC provides patients with the care and education to address all issues related to the disorder. The team consists of physicians (hematologists or blood specialists), nurses, social workers, physical therapists, and other healthcare providers who are specialized in the care of people with bleeding disorders.
How does hemlibra work?
Hemlibra ® works by replacing the function of factor VIII (8) , rather than replacing the missing clotting factor VIII directly. It can be used to either prevent or reduce the frequency of bleeding episodes in people with hemophilia A. This treatment product can be given by injection under the skin. Patients who use Hemlibra ® for prophylaxis and use clotting factor concentrates to treat breakthrough bleeds, can still develop an inhibitor. Traditional laboratory inhibitor testing methods do not work when testing for inhibitors in patients on Hemlibra ®; as such, a specialized testing method called the chromogenic Bethesda assay is needed.
Why is cryoprecipitate not used?
However, because there is no method to kill viruses, such as HIV and hepatitis, in cryopreci pitate, it is no longer used as the current standard of treatment in the United States.
Where does factor VIII come from?
The medications release factor VIII (8) from where it is stored in the body tissues. For people with mild, as well as some cases of moderate, hemophilia, this can work to increase the persons own factor VIII (8) levels so that they do not have to use clotting factors to stop bleeding episodes.
Is factor VIII made from human plasma?
Until 1992, all factor replacement products were made from human plasma. In 1992, the U.S. Food and Drug Administration (FDA) approved recombinant factor VIII (8) concentrate, which does not come from human plasma. This concentrate is genetically engineered using DNA technology. Commercially prepared factor concentrates are treated to remove or inactivate bloodborne viruses. Additionally, recombinant factors VIII (8) and IX (9) do not contain any plasma or albumin, and therefore, cannot spread any bloodborne viruses.
