About Hemophilia
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Name of the medical condition and other names that it’s been known by
Hemophilia
Christmas Disease (for Hemophilia B)
Royal Disease (Historical term)
Rosenthal Syndrome (Hemophilia C)
What is Hemophilia?
Hemophilia is a rare genetic disorder that impairs the body's ability to form blood clots. It lacks sufficient clotting factors; proteins essential for proper blood clotting. Hemophilia is characterized by excessive bleeding, even from minor cuts or injuries. When a person with hemophilia sustains an injury, since their blood does not clot effectively, it leads to prolonged and excessive bleeding.
Types of Hemophilia
Hemophilia A: This is the most prevalent form, affecting approximately 80% of individuals. It is caused by a deficiency or absence of clotting factor VIII (8).
Hemophilia B: Also known as Christmas disease, this type accounts for around 20% of cases and is caused by a deficiency or absence of clotting factor IX (9).
Hemophilia C: Also known as Rosenthal syndrome, this is caused by low levels of factor XI (11). It differs from types A and B in cause and bleeding tendency.
How Is Hemophilia Diagnosed?
Doctors use a combination of questions, a physical exam, and blood tests to find out if someone has hemophilia:
Family and medical history — Checking for unusual bleeding problems in the family.
Physical exam — Looking for large bruises, swollen joints, or prolonged bleeding.
Basic blood count — A simple test to check blood cells.
Clotting time tests — Measuring how long it takes for blood to clot.
Clotting factor test — The most important test to determine the specific type and severity.
Genetic test — Checking DNA for the gene change causing the disorder.
Newborn testing — Testing cord blood for babies in families with a history of hemophilia.
How Is Hemophilia Treated?
While there is no cure, various treatments effectively prevent and control bleeding:
Replacing Missing Clotting Protein — Delivering the missing protein via a needle into a vein.
Emicizumab — A newer option for Hemophilia A given as a shot under the skin.
Desmopressin — Used for mild Hemophilia A to release stored clotting proteins.
Rebalancing medicines — Newer drugs that help the body's clotting system work better.
Gene Therapy — Placing a healthy copy of the missing gene into the body; one version is already FDA-approved for Hemophilia B.
Other Important Information
Wound sealants — Medicines applied directly to a wound to stop surface bleeding.
Physical therapy — Helping joints that have been damaged by repeat bleeding.
Medication Safety — Avoid aspirin and ibuprofen as they can worsen bleeding.
Physical Activity — Low-impact activities like swimming or walking are recommended over contact sports.
Specialized Care — Treatment at specialized bleeding disorder centers leads to better outcomes.
Trend
In the United States: Approximately 33,000 people have hemophilia according to the CDC.
Stability: As a genetic disorder present from birth, the incidence rate remains relatively stable, though management is improving.
History
Ancient Origins: First described in the 2nd century AD as the "bleeding disease."
Royal Connection: Nicknamed the "royal disease" due to its prevalence in European royal families in England, Germany, Russia, and Spain.
Naming: A German doctor named the condition "hemophilia" in 1828, from Greek words meaning "love of blood."
Modern Breakthroughs: Significant improvements occurred in the 1960s with clotting factor products and in the 1980s with safer, man-made factors.
Hemophilia - Source of Information
For informational purposes only. Consult a medical professional for advice.