What are facts about hemophilia?
Hemophilia is a genetic disorder,inherited from the parental genes. ...The gene for hemophilia lies on the X chromosome,and it is of recessive nature. ...It is a well-known fact that the sex chromosomes of a female consists of XX chromosome and that of a male consists of XY chromosome. ...More items...
How many people have hemophilia?
Out of 3,077 hemophilia patients, 46 (29 patients in the prospective group and 17 in the retrospective one) experienced ICH. Fifteen of them were 16 years old or younger and had severe hemophilia.
How often does hemophilia occur?
How common is hemophilia? Hemophilia is a rare disorder. It can occur in all races and ethnic groups. Hemophilia A affects 1 in 5,000 to 10,000 males. Hemophilia B is less common, affecting 1 in 25,000 to 30,000 males. Around 60% to 70% of people with hemophilia A have the severe form of the disorder and about 15% have the moderate form.
What are the statistics of hemophilia?
Incidence and StatisticsHemophilia A (deficiency of VIII) is most commonly seen in males Affects 1 in 5,000 male live births Affected males cannot pass the gene to their sons,but will pass ...Women who are carriers are able to pass on the gene even without having hemophilia. ...Hemophilia is an X- linked recessive traitMore items...
What is the effect of hemophilia on blood clotting?
About 15-20 percent of people with hemophilia develop an antibody (called an inhibitor) that stops the clotting factors from being able to clot the blood and stop bleeding. Treatment of bleeding episodes becomes extremely difficult, and the cost of care for a person with an inhibitor can skyrocket because more clotting factor or a different type of clotting factor is needed. People with inhibitors often experience more joint disease and other problems from bleeding that result in a reduced quality of life.
How many copies of the X chromosome are there?
This means that males only have one copy of most of the genes on the X chromosome, whereas females have 2 copies. Thus, males can have a disease like hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII or factor IX gene. Females can also have hemophilia, but this is much rarer. In such cases both X chromosomes are affected or one is affected and the other is missing or inactive. In these females, bleeding symptoms may be similar to males with hemophilia.
How is hemophilia determined?
The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems. In rare cases, a person can develop hemophilia later in life. The majority of cases involve middle-aged or elderly people, ...
What is hemophilia clotting?
Table of Contents. Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Blood contains many proteins called clotting factors that can help to stop bleeding. People with hemophilia have low levels ...
What tests are done to determine if a newborn has 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.
What is an HTC?
Often the best choice for care is to visit a comprehensive Hemophilia Treatment Center (HTC). An HTC not only provides care to address all issues related to the disorder, but also provides health education that helps people with hemophilia stay healthy. Learn more about treatment.
How do you know if you have hemophilia?
Signs and Symptoms. Common signs of hemophilia include: Bleeding into the joints. This can cause swelling and pain or tightness in the joints; it often affects the knees, elbows, and ankles. Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-up of blood in the area (called a hematoma).
What is hemophilia?
People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.
What are the symptoms of hemophilia?
Symptoms of hemophilia include prolonged oozing after injuries, tooth extractions or surgery; renewed bleeding after initial bleeding has stopped; easy or spontaneous bruising; and prolonged bleeding.
What is the treatment for hemophilia?
There is currently no cure for hemophilia. Treatment depends on the severity of hemophilia .
What is the purpose of genetic testing?
Genetic testing is usually used to identify women who are carriers of a FVIII or FIX gene mutation, and to diagnose hemophilia in a fetus during a pregnancy (prenatal diagnosis). It is sometimes used to diagnose individuals who have mild symptoms of hemophilia A or B.
What causes hemophilia in the FVIII gene?
Mutations in the FVIII gene cause hemophilia A. Mutations in the FIX gene cause hemophilia B. Proteins made by these genes have an important role in the blood clotting process. Mutations in either gene keep clots from forming when there is an injury, causing too much bleeding that can be difficult to stop.
How to diagnose hemophilia A and B?
Hemophilia A and B are diagnosed by measuring factor clotting activity. Individuals who have hemophilia A have low factor VIII clotting activity. Individuals who have hemophilia B have low factor IX clotting activity. Genetic testing is also available for the factor VIII gene and the factor IX gene.
What are the two most common types of hemophilia?
The two most common types of hemophilia are hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). People who have hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People who have hemophilia B have low levels of factor nine (FIX).