The NHF is dedicated to finding better treatments and a cure for inheritable bleeding disorders. It does this through awarding research grants and through political advocacy at all levels of government. It also offers opportunities for community education and support through its local chapters , and has a camp locator for children with bleeding disorders.
By subscribing you agree to the Terms of Use and Privacy Policy. Health Topics. Health Tools. Reviewed: September 9, Medically Reviewed. Types of Hemophilia Hemophilia A Classic Hemophilia The most common type of hemophilia, hemophilia A, is caused by an insufficient amount of clotting factor 8. It rarely occurs in females. Common signs and symptoms of hemophilia include: 1 Bleeding into the joints, which can cause swelling and pain or tightness in the joints often the knees, elbows, and ankles Bleeding into the skin bruising or into muscle and soft tissue, causing an accumulation of blood hematoma Bleeding of the mouth and gums, and bleeding that is difficult to stop after losing a tooth Bleeding after circumcision Bleeding after having shots or vaccines Bleeding in the head of an infant after the baby is delivered Blood in the urine or stool Frequent bleeding and nosebleeds that are difficult to stop.
In most cases, hemophilia is an inherited disease. This means a person who has hemophilia inherited the genetic mutation that causes it from one or both parents. In rare cases, a person develops hemophilia late in life, sometimes because of an underlying autoimmune disease.
Is hemophilia inherited from the mother or the father? The genes for hemophilia A and B are carried on the X chromosome. Women have two X chromosomes and men have one. Any boy who receives an X chromosome with the gene mutation from his mother will have hemophilia.
A girl must receive X chromosomes with the mutation from both parents to have it. Hemophilia C is inherited from both mothers and fathers. Can girls have hemophilia? Yes, girls who receive two X chromosomes or chromosome 4, in the case of hemophilia C with genetic mutations, one from each parent, will have hemophilia.
However, girls who receive only one such chromosome may still have clotting factor deficiencies and experience excessive bleeding.
Can you grow out of hemophilia? No, hemophilia is a lifelong condition. In the future, gene therapy for hemophilia may make infusions of clotting factor unnecessary. What is the average life expectancy of a person with hemophilia? In most cases, hemophilia is a genetic, or inherited, disease.
Screening Tests Screening tests are blood tests that reveal whether the blood is clotting properly. There are several types of screening tests for hemophilia: Complete Blood Count CBC This test measures the amount of hemoglobin the red pigment inside red blood cells that carries oxygen , the size and amount of red blood cells, and the amounts of white blood cells and platelets in the blood.
Activated Partial Thromboplastin Time APTT Test This test reveals how much time it takes for blood to clot; specifically, it measures the clotting ability of factors 8, 9, 11, and Fibrinogen Test This test also reveals how well a person can form a blood clot. Clotting Factor Tests Clotting factor tests, which are required to diagnose a bleeding disorder, reveal the type of hemophilia and how severe it is. Prognosis of Hemophilia People with hemophilia are likely to have a relatively normal life expectancy and quality of life if they receive the treatment that they need and are knowledgeable about their condition, according to the Cleveland Clinic.
Acquired hemophilia often goes away with treatment. Plasma-Derived Factor Concentrates Plasma-derived factor concentrates are blood clotting factors that come from plasma donated by other people. Recombinant Factor Concentrates Recombinant factor concentrates are a newer type of therapy that uses genetic engineering to create blood replacement products. Medication Options Other medication people with hemophilia might receive include clot-promoting drug called anti-fibrinolytics.
Clotting factors are proteins in the blood that work with cells known as platelets to form clots. Hemophilia occurs when a clotting factor is missing or levels of the clotting factor are low. Hemophilia is usually inherited, meaning a person is born with the disorder congenital.
Congenital hemophilia is classified by the type of clotting factor that's low. The most common type is hemophilia A, associated with a low level of factor 8 The next most common type is hemophilia B, associated with a low level of factor 9. Some people develop hemophilia with no family history of the disorder. This is called acquired hemophilia.
Acquired hemophilia is a variety of the condition that occurs when a person's immune system attacks clotting factor 8 or 9 in the blood. It can be associated with:. In the most common types of hemophilia, the faulty gene is located on the X chromosome. Everyone has two sex chromosomes, one from each parent. Females inherit an X chromosome from the mother and an X chromosome from the father. Males inherit an X chromosome from the mother and a Y chromosome from the father.
This means that hemophilia almost always occurs in boys and is passed from mother to son through one of the mother's genes.
Your doctor will remove a small sample of blood from your vein and measure the amount of clotting factor present. The sample is then graded to determine the severity of the factor deficiency:.
Your doctor can treat hemophilia A with a prescription hormone. This hormone is called desmopressin, which they can give as an injection into your vein. This medication works by stimulating the factors responsible for the process of blood clotting.
Your doctor can treat hemophilia B by infusing your blood with donor clotting factors. Sometimes, the factors may be given in the synthetic form. Your doctor can treat hemophilia C using plasma infusion.
The infusion works to stop profuse bleeding. The deficient factor responsible for hemophilia C is only available as a medication in Europe. However, if your eggs are fertilized in a clinic using in vitro fertilization, they can be tested for the condition. Then, only the eggs without hemophilia can be implanted. Preconception and prenatal counseling can also help you understand your risk of having a baby with hemophilia.
Get a better understanding of this genetic bleeding disorder, including causes, risk factors, symptoms, and potential complications. Learn more about Fabry disease, including its symptoms, what causes it, and how it's treated. Karyotyping is a lab procedure that helps your doctor examine your chromosomes. Factor II deficiency is a very rare blood clotting disorder.
It results in excessive or prolonged bleeding after an injury or surgery. Learn about the common and rare side effects of tranexamic acid, which range from bothersome to life-threatening, as well as when you should see a…. Based on recent study that used data collected on patients receiving care in federally funded hemophilia treatment centers during the period , about 20, as many as 33, males in the United States are living with the disorder.
Hemophilia A is about four times as common as hemophilia B, and about half of those affected have the severe form. Hemophilia affects people from all racial and ethnic groups. Many people who have or have had family members with hemophilia will ask that their baby boys get tested soon after birth. About one-third of babies who are diagnosed with hemophilia have a new mutation not present in other family members. In these cases, a doctor might check for hemophilia if a newborn is showing certain signs of hemophilia.
To make a diagnosis, doctors would perform certain blood tests to show if the blood is clotting properly. If it does not, then they would do clotting factor tests, also called factor assays, to diagnose the cause of the bleeding disorder. These blood tests would show the type of hemophilia and the severity. Learn more about diagnosis. The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly.
This is done by infusing administering through a vein commercially prepared factor concentrates. People with hemophilia can learn how to perform these infusions themselves so that they can stop bleeding episodes and, by performing the infusions on a regular basis called prophylaxis , can even prevent most bleeding episodes. Good quality medical care from doctors and nurses who know a lot about the disorder can help prevent some serious problems.
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