Hemophilia – What it is, Symptoms and Treatments Hemophilia is a genetic and inherited disorder that affects blood clotting. Blood is made up of several substances, each of which has a function.
Some of these substances are proteins called clotting factors, which help stop bleeding when blood vessels break.
People with severe hemophilia may have spontaneous bleeding from joints or muscles.
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The most affected joints are knees, elbows and ankles. As clotting in these people is very slow, there is a lot of bloodshed in these regions causing swelling and pain.
Hemophilia is an inherited bleeding disorder where a person lacks or has low levels of certain proteins called “clotting factors” and the blood does not clot properly as a result. This leads to excessive bleeding.
There are 13 types of clotting factors, which work with platelets to help the blood clot .
Platelets are small blood cells that form in your bone marrow. According to the World Federation of Hemophilia (FMH), about one in 10,000 people are born with this disease.
A process in your body that is known as the “clotting cascade” normally stops bleeding. Blood platelets clot, or gather at the wound site, to form a clot. Then, the body’s clotting factors work together to create a more permanent plug in the wound. A low level of these clotting factors or the absence of them causes bleeding to continue.
What are the symptoms?
The extent of your symptoms depends on the severity of your factor deficiency. People with mild disabilities may bleed in the event of trauma. People with a severe disability can bleed for no reason. This is called “spontaneous bleeding”. In children with hemophilia , these symptoms may occur around age 2 years.
Spontaneous bleeding can cause the following:
- blood in the urine
- blood in the stool
- deep bruises
- Large unexplained bruises
- excessive bleeding
- bleeding gums
- frequent nosebleeds
- joint pain
- tight joints
- Irritability (in children)
How is it Diagnosed?
Hemophilia is diagnosed through a blood test. Your doctor will remove a small sample of blood from your vein and measure the amount of clotting factor present. The sample is then sorted to determine the severity of the factor deficiency:
- Mild hemophilia is indicated by a clotting factor in the plasma that is between 5 and 40 percent.
- Moderate hemophilia is indicated by a clotting factor in the plasma that is between 1 and 5 percent.
- Severe hemophilia is indicated by a plasma clotting factor of less than 1 percent.
How is it Treated?
Your doctor may treat hemophilia A with a prescription hormone. This hormone is called desmopressin, which they can give you as an injection into your vein. This medication works by stimulating the factors responsible for the blood clotting process .
Your doctor can treat hemophilia B by infusing your blood with donor clotting factors. Sometimes factors can be given in synthetic form. These are called “recombinant clotting factors”.
Your doctor may treat Hemophilia C with a plasma infusion. The infusion works to stop profuse bleeding. The deficient factor responsible for Hemophilia C is only available as a medicine in Europe. You can also go to physical therapy for rehabilitation if your joints are damaged by hemophilia.
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Hemophilia is a condition passed from a mother to her child. When you’re pregnant, there’s no way to know if your baby has the condition. However, if your eggs are fertilized at a clinic using IVF, they can be tested for the condition. So, only eggs without hemophilia can be implanted. Preconception and prenatal counseling can also help you understand the risk of having a baby with hemophilia .