Hemophilia is a rare genetic disorder. Due to significant advancements in medical science and research, most people diagnosed with this blood disorder are able to lead active, productive lives with the right treatment.
Definition & Facts
Hemophilia is an inherited condition in which a person’s blood does not have the coagulation factors - either factor VIII, factor IX, or factor XI - required for their blood to clot normally. Hemophilia is mostly found in males, but both sexes can inherit this condition.
Symptoms & Complaints
Other symptoms can include joint pain, unexplained bruising over large areas of the body, frequent nosebleeds that come on unexpectedly and do not respond to normal treatment protocols, and the passing of blood in stool or blood in urine.
If someone with hemophilia experiences any of the following symptoms, they should seek immediate emergency medical help:
- an injury or some other form of physical trauma that results in bleeding
- a headache that is painful and does not go away (this may indicate bleeding into the brain, especially if the person recently hit their head)
- the sudden, unexplained swelling or pain in any of the body’s joints, especially if it is accompanied by warmth (this may be an indication of bleeding into the joint spaces). Joint deterioration and joint damage can occur over time due to this type of bleeding.
There are three types of hemophilia. The first type is hemophilia A. It is also referred to as “classic hemophilia.” This form of the disorder is caused by a person’s blood lacking VIII coagulant proteins. The second type is hemophilia B. Cases of hemophilia “B” are caused by a lack of IX coagulant proteins in the blood. Hemophilia C is a form of the disorder that results in milder symptoms and is caused by the lack of coagulant factor XI.
Both hemophilia A and hemophilia B are connected to the X chromosome that determine a person’s gender. Females born to hemophiliac fathers are usually carriers of this disorder, meaning they may not have it themselves, but they can pass it to their offspring. If a male’s mother has hemophilia, he has a 50% chance of inheriting this disorder.
Diagnosis & Tests
While there is currently no known cure for hemophilia, there are a few effective treatment options available for patients with this diagnosis. If a person experiences episodes of uncontrolled bleeding, and they have other blood-related family members that are known hemophiliacs, blood tests can be ordered to confirm the suspected diagnosis. These tests can be performed on patients as young as 9 months old.
If a patient is suspected of having hemophilia, these blood tests can determine what type it is and the level of severity of the disorder. Each type of hemophilia has a different treatment protocol. Determining what type of hemophilia a patient has is a critical step towards ensuring they receive the right treatment.
Treatment & Therapy
The most common treatment for hemophilia is the use of clotting factor replacement therapy. It is administered intravenously. Depending upon which type of the disorder a patient has, either replacement VIII or IX clotting factors will be given to them to replenish the deficiency in their blood. These factors can be made from human blood or from non-human sources called recombinant factors.
On-going replacement therapy acts as a measure to help reduce the number of severe bleeding episodes. Patients that receive this type of therapy on an as-needed basis are receiving what is referred to as “demand therapy.” Both types of therapy can be performed as outpatient procedures conducted at home, with proper instructions and guidance from a physician.
It is worth noting that 20%-30% of patients that receive replacement therapy are at risk of developing a condition in which the antibodies in their blood incorrectly see the clotting factors as foreign invasive substances and attack them, much like the immune system reacts to viruses and bacteria. In patients that develop this condition, replacement therapy is not an effective treatment option.
Other treatments include the use of medications such as tranexamic acid or epsilon aminocaproic acid in addition to replacement therapy to help solidify blood clots that form during treatment, thus increasing the overall effectiveness of the therapy. Physical therapy may also be prescribed for patients that incur joint damage as a result of having hemophilia.
Prevention & Prophylaxis
If women that are known to be hemophilia carriers have recently given birth to a male infant, the infant should undergo blood testing for hemophilia before being circumcised. All patients need to have a medical emergency information card that list their condition, their current medications and treatments, who their physician is, and who to contact in the event of an emergency.
They should keep this card physically on them at all times. It could make a difference by ensuring the patient receives the right treatment when it is needed the most, possibly even saving their lives in the event of a severe bleeding episode.
Several scientific studies and trials have shown that ongoing replacement therapy, when used as a prophylaxis treatment, results in better overall hemophilia management than demand therapy used only for individual incidents of uncontrolled bleeding. If prophylaxis therapy is started early enough after the patient’s initial diagnosis, they tend to experience a reduced number of episodes of uncontrolled bleeding.