About Hemophilia Hemophilia Overview
An Introduction To Hemophilia1
Hemophilia is a rare genetic blood clotting disorder that primarily affects males. People living with hemophilia do not have enough of, or are missing, one of the blood clotting proteins, known as clotting factors, naturally found in blood. However, with proper physician-directed treatment, people with hemophilia can live a full and active life.
About Hemophilia A, B And C2
The two most common forms of hemophilia are A and B. If you have hemophilia A (also called classic hemophilia), clotting factor VIII protein is not present in sufficient amounts or is absent. Those with hemophilia B (also called Christmas disease) do not have sufficient amounts of clotting factor IX. The third and rarest form is hemophilia C, in which factor XI is non-present in sufficient amounts or missing. As a result, in all forms of hemophilia, it takes your body longer than others to begin the clotting process.
People with hemophilia do not bleed more profusely or faster than others. Instead, they bleed for longer periods of time.
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How Blood Clots:
Blood clotting, or coagulation, is the process that controls bleeding. This process involves as many as 20 different plasma proteins, or blood clotting factors. Normally, a complex chemical process occurs using these clotting factors to form a substance called fibrin that stops bleeding.3
Normal clotting sequence.
Interrupted clotting sequence.
When a person whose blood factor levels are normal experiences a bleed, the following series of events are set in motion:4
Blood vessels shrink so that less blood will leak out.
Tiny cells in the blood called platelets stick together around the wound to patch the leak.
Blood proteins, platelets, calcium and other tissue factors reach together and form what is known as a clot. The clot acts like a net to reinforce wound closure.
When certain blood clotting factors are deficient or missing, the blood does not clot as it should, and it takes longer for a clot to form and for bleeding to stop. Treatment is available that involves infusing the missing factors so that the blood will clot more effectively.
Who Gets Hemophilia?5
Virtually all people who have hemophilia are born with it. The majority of people with hemophilia have a family history (it is a hereditary disorder).
For more information, see Who gets hemophilia?
In as many as 30% of cases, there is no family history of hemophilia. In these cases, the mother may not be aware that she carries the gene for hemophilia, or a gene mutation may have occurred spontaneously.
The History Of Hemophilia1
Hemophilia was identified as early as biblical times. Doctors in medieval times were familiar with hemophilia as well. In 1803, a Philadelphia doctor published the first description of hemophilia in the United States, but it was not until 30 years later that hemophilia became widely recognized.
Hemophilia later developed a reputation as the “royal disease” because it passed from Queen Victoria of England to her descendants throughout the royal houses of Europe.
Recent Treatment Advances For Hemophilia2
The most significant advances in hemophilia treatment have been made in the last four decades. Baxter Healthcare Corporation introduced the first commercially available blood plasma-derived factor concentrate for hemophilia A in 1968.6
In the early 1970s, home treatment of hemophilia A became widely available, offering people with hemophilia greater independence and reduced hospital stays.
Today, recombinant DNA technology and the discovery of the genes that control production of factor VIII have led to the development of recombinant factor concentrates that do not rely on human plasma at all.
If you have hemophilia, you should discuss which factor VIII replacement therapy is best for you with your physician.
Note: ThereForYou.com does not recommend a particular treatment for specific individuals and recommends that you consult your treatment center or physician before pursuing any course of treatment.
References
- World Federation of Hemophilia. History of Hemophilia. http://www.wfh.org/2/1/1_1_3_HistoryHemophilia.htm. Accessed June 8, 2011.
- World Federation of Hemophilia. Frequently Asked Questions About Hemophilia. http://www.wfh.org/2/1/1_1_1_FAQ.htm. Accessed June 8, 2011.
- National Hemophilia Foundation. What Is A Bleeding Disorder?
http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=26&contentid=5&rptname=bleeding. Accessed June 8, 2011. - World Federation of Hemophilia. What are rare clotting factor deficiencies? http://www.wfh.org/2/1/1_3_What-are-clotting-factors.htm. Accessed June 8, 2011.
- World Federation of Hemophilia. Hemophilia In Pictures. http://www.wfh.org/en/index.html. Accessed June 8, 2011.
- Kingdon HS., Lunbald RL, An adventure in biotechnology: the development of haemophilia A therapeutics—from whole-blood transfusion to recombinant DNA to gene therapy. Biotechnol. Appl. Biochem. 2002; 35, 141-148.
