What Is Hemophilia? Symptoms, Causes, Diagnosis, Treatment, and Prevention

Most people have heard of hemophilia, but they do not fully understand what it is, why the body does not stop bleeding, or what is the treatment.

Blood That Does Not Clot Normally

Haemophilia is a genetic condition in which a person bleeds excessively because their blood does not clot normally.

Healthy blood contains proteins called clotting factors. When a person sustains an injury, it causes rupture in one or more walls of the blood vessels, blood platelets and clotting factors combine to form a clot to stop the bleeding.

In people with hemophilia, some of the clotting factors are less than normal, which means that their bodies cannot normally seal the injured blood vessels.

Haemophilia can be mild, moderate or severe.

In mild forms of hemophilia, excessive bleeding may occur only after surgery or a serious injury.

In severe forms of hemophilia, there is prolonged bleeding after a minor injury, or after a minor injury.

Is Hemophilia a Genetic Disease?

In most cases, hemophilia is a genetic, or inherited disease.

However, a rare, autoimmune type of hemophilia called acquired hemophilia can develop later in life, sometimes as a complication of another autoimmune disease, and sometimes without any known cause.

Acquired hemophilia can occur at any age but is most common in the elderly. (1)

Types of Hemophilia: A, B, and C

Different types of hemophilia – A, B and C – are caused by lower than normal levels of various blood clotting factors.

Hemophilia A

The most common type of hemophilia is hemophilia A, caused by a deficiency of a clotting factor called factor 8 (VIII). 8 out of 10 people with hemophilia have hemophilia A. Sometimes called classical hemophilia, it occurs in 1 in 5,000 male births and affects an estimated 20,000 people in the United States. (2)

Both men and women can develop hemophilia A, but it is more common in men.

Today, most people with hemophilia A live longer and healthier lives if they get proper care and take good care of their condition, but this is not always the case.

The average adult male with hemophilia A is approximately 10 years younger than similar men without hemophilia. But with improved treatment, babies born today with hemophilia A are expected to be just as old as their peers without hemophilia. (2)

Hemophilia B

Haemophilia B results from insufficient clotting factor 9 (IX). This rare condition occurs in about 1 in 25,000 male births and affects approximately 3,300 people in the United States.

Men who carry the altered gene, which is located on the X chromosome, always have symptoms, while women who carry the gene may or may not have abnormal bleeding.

Hemophilia B is also known as Christmas disease, as the first mention of disruption in the medical literature was made by a man named Stephen Christmas. It is sometimes called the royal disease, because it affected the family of Queen Victoria of England and her descendants.

Individuals with an abnormal form of hemophilia B, called haemophilia b leiden, have an undetectable level of early 9 in life but levels increase over time, according to the National Association of Rare Diseases. So when they experience episodes of excessive bleeding in childhood, they usually experience some difficulty bleeding after puberty.

Hemophilia C

Haemophilia C is caused by a deficiency of clotting factor 11 (XI). In general, these types of A and B have less abnormal bleeding and rarely sudden bleeding in the joints or muscles. A person with hemophilia C is more likely to have prolonged bleeding after surgery.

In the general American population, hemophilia C is rare, affecting about 1 in every 100,000 people. Among the Ashkenazi Jews in Israel, however, the prevalence of hemophilia C is as high as 8%.

Unlike Haemophilia A and B, the level of clotting factor in Haemophilia C does not correspond to a person’s bleeding tendency. According to the National Organisation’s National Organization, a person with severe dementia may not have more than 11 hemorrhages, while a person with mild dementia may have more bleeding.

Signs and Symptoms of Hemophilia

Easy injury and excessive bleeding, or bleeding that does not clot, are the most common symptoms of hemophilia. The condition may not become clear until the person has a medical procedure (relatively minor, such as dental work or circumcision) that causes more bleeding than normal.

In hemophilia A and B, the severity of bleeding and other symptoms depend on the level of the person’s clotting factor. The lower the level of the person, the more bleeding there will be.

Bleeding caused by hemophilia can be internal or external. Internal bleeding may appear in the urine if there is bleeding in the kidneys or bladder, or in the stool if the blood is in the intestines or stomach. Bleeding into the muscles of the body can cause major injuries.

External bleeding after minor injuries or for no apparent reason. Some examples of bleeding include:

Excessive bleeding after injections, such as injections
Excessive bleeding from fractures or injuries for which there is no other explanation
Excessive bleeding during or after surgery or dental work or after losing a tooth
Unknown nose
Bleeding can occur in someone’s joints, causing them to become swollen, painful, tender or hot. Bleeding in the joints without any major injury. The joint may feel “tight” or “ridiculous” before it swells. Bleeding in the joint without treatment can permanently damage the joint.

Bleeding to the brain is a serious complication that can occur even after a small head injury to someone with hemophilia. Symptoms include chronic headache, neck pain or stiffness, vomiting, drowsiness, behavioral changes, sudden weakness or clumsiness or lack of coordination, dual vision, and convulsions or seizures. (4)

Causes and Risk Factors of Hemophilia

Most cases of hemophilia are congenital, that is, a person who has inherited this genetic mutation from one or both parents. Congenital hemophilia can be diagnosed at any age, including before birth if parents choose to have a prenatal test.

While hemophilia can, in rare cases, be acquired, it cannot be passed from one person to another in the same way as a cold.

 

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