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Is it possible to have hemophilia — a rare, inherited blood-clotting disorder causing abnormal bleeding — and not know about it?
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Yes. If you are born into a family that has no history of hemophilia, doctors would not test you for it. While you may have experienced slow wound healing after a cut or scrape, it’s possible that you and your family did not recognize this as being unusual.
You may only discover you have mild hemophilia after a surgery or an accident and your attending physician notices that you have excessive bleeding and slow wound healing.
A Little Background
If you have hemophilia, your blood will not clot normally after a cut or wound, but takes much longer to heal because your blood lacks sufficient amounts of a specific blood-clotting protein.
Small scrapes and cuts aren’t enough to cause alarm because they will heal, just slowly — but problems will arise if you have internal bleeding. For instance, if you fall and hurt your knee and bleeding occurs inside your knee.
In an emergency room, a medical team can stop the bleeding by giving you the specific blood clotting factors you need to speed up wound healing.
However, if you can’t get medical treatment or get it too late, it can damage tissue or harm internal organs.
If a family has a history of this genetic disorder, specific tests of a blood sample from the umbilical cord can detect if a newborn has it. Modern medicine can also do genetic testing of hemophilia before childbirth.
The other way of recognizing hemophilia is if parents notice abnormal bleeding after a cut or wound and take the child to their family doctor.
In unusual cases, a medical professional might detect it in adulthood after someone has a dental treatment or surgery and observes the abnormal bleeding pattern.
Types of Hemophilia
There are two types of hemophilia: The first is classic hemophilia, also called hemophilia A, and the second is Christmas disease, also caused Hemophilia B. Hemophilia A affects about 80% of people, while hemophilia B affects about 20%.
If you have hemophilia A, you have too little factor VIII (FVIII) a plasma protein essential to helping your blood clot. The higher your level of deficiency, the more severe your symptoms.
If you have a 6% to 49% ratio of FVIII (factor VIII), you have mild hemophilia; if you have a 1% to 5% ratio, you have moderate hemophilia; and if you have less than a 1% ratio of FVIII, then you have severe hemophilia.
Hemophilia B is classified in a similar way. It can be mild, moderate, or severe, and the less you have of a specific plasma protein, the greater the severity. In hemophilia B, you have insufficient amounts of the plasma protein factor IX (FIX)
Hemophilia is inherited and it’s associated with genes on the X chromosome, one of the two sex chromosomes.
Signs & Symptoms
Symptoms of hemophilia depend on whether you have a mild, moderate, or severe form of either hemophilia A or hemophilia B.
If you have mild hemophilia, then you may only bleed after a physical accident or surgery. This can heal quickly if a doctor has given you the clotting factors.
However, if you have severe hemophilia, you may bleed excessively after a cut, injury, or medical treatment. Sometimes, too, you may bleed spontaneously, like having nose-bleeds for or blood in your stool for no known reason.
Or you may bleed copiously after a mild skin trauma, like a vaccination injection.
Medical Breakthrough Awaiting Approval
While giving patients more of the blood plasma they need can stop the bleeding, BioMarin Pharmaceutical has developed a promising new treatment for hemophilia.
They are planning to submit their hemophilia gene therapy to US and European healthcare regulators in the fourth quarter of this year.
If approved, which may occur as soon as the middle of next year, patients will only need one treatment of a drug called Valrox rather than constantly need infusions of the blood-clotting protein.
A Promising Future
Usually, hemophilia is not life-threatening, especially if you have mild-to-moderate hemophilia and receive quick medical treatment. You will stop bleeding after receiving the missing blood plasma protein.
However, if you have severe hemophilia and experience a bump to your head, it can cause bleeding into the brain.
This can cause a wide range of symptoms like weakness, clumsiness, lethargy, sleeplessness, repeated vomiting, and long-lasting headaches. If not treated, it could be fatal.
If Valrox gets the approval it needs, brain bleeding and other serious health risks associated with hemophilia will be a thing of the past.
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