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 HOME >> Diseases >> Diseases Index >> Index H >> Haemophilia
Haemophilia  

 

 


What Is Haemophilia?
Haemophilia is a rare inherited bleeding disorder in which the blood does not clot normally. Persons with haemophilia may bleed for a longer time than others after an injury or accident. They also may bleed internally, especially in the joints (knees, ankles, and elbows).

Babies born with haemophilia are missing or have a low level of a protein needed for normal blood clotting or blood coagulation. The protein is called a clotting factor.

Haemophilia usually occurs only in males (with very rare exceptions).

A person with haemophilia has a problem with certain proteins in the blood called clotting factors. Haemophilia can be due to:

A low level of one of the clotting factors
A clotting factor that is completely missing

When clotting factors are missing, or your body does not have enough of these factors, it can take a long time for your blood to clot after an injury or accident.

Types of Haemophilia
The two main types of haemophilia are:

Haemophilia A: Clotting factor VIII (8) is low or missing. About 9 of 10 people with haemophilia have type A.
Haemophilia B: Clotting factor IX (9) is low or missing.

Haemophilia also can be acquired when antibodies to these clotting factors form and block their function. Only inherited haemophilia is discussed here.

Haemophilia can be:
Mild
Moderate
Severe

Mild, moderate, or severe haemophilia is determined by the amount of clotting factor in the blood. About 7 of 10 people with haemophilia A have the severe form. Normal persons have a factor VIII activity of 100 percent; persons with severe haemophilia A have a factor VIII activity of less than 1 percent.
Other Names for Haemophilia

Haemophilia A

Classic haemophilia
Factor VIII deficiency

Haemophilia B
Christmas disease
Factor IX deficiency

What Causes Haemophilia?
Haemophilia is an inherited disorder. It is caused by a defect in the genes that determine how the body makes blood clotting factors VIII and IX. These genes are located on the X chromosomes (KRO-muh-somz), which determine whether a baby is a boy or girl.

Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. A woman is a �carrier� if she has a defective gene for factor VIII or factor IX on one of her X chromosomes. She can pass the defective gene on to her children.

If she has a son, there is a one in two (50 percent) chance that he will have haemophilia.
If she has a daughter, there is a one in two (50 percent) chance that the daughter will be a carrier.

A man who has haemophilia cannot pass the disorder on to his sons. All of his daughters, however, will be carriers.

Very rarely, a girl is born with haemophilia. This can happen if her father has haemophilia and her mother is a carrier.

Some males with the disorder are born to mothers who are not carriers. In these cases, a random change (mutation) occurs in the gene as it is passed to the child.

What Are the Signs and Symptoms of Haemophilia?

The major signs and symptoms of haemophilia are:
Bleeding
Bruising

Internal bleeding is common in people with severe haemophilia. If not treated promptly, internal bleeding can lead to damaged joints, muscles, or other parts of the body.

The extent of bleeding depends on the type and severity of the condition:

Children with very mild haemophilia may not have noticeable symptoms for years. Often, the first sign is heavy bleeding from a dental procedure, an accident, or surgery.
Children with mild to moderate haemophilia may not have any signs or symptoms at birth.
Males with severe haemophilia may bleed heavily after circumcision.

In most children, the first signs are:
Heavy bruising and bleeding from the gums as they cut their baby teeth
Bumps and bruises from frequent falls as they learn to walk
Swelling and bruising from bleeding in the joints, soft tissue, and muscles

Females who are carriers usually have enough clotting factors from their one normal gene to prevent serious bleeding problems.

The most common signs or symptoms in older children and adults are:
Bleeding in the joints (hemarthrosis (HE-mar-thro-sis))
Bleeding and bruising in the soft tissue and muscles
Bleeding in the mouth from a cut or bite or loss of a tooth
Nosebleeds for no obvious reason
Blood in the urine (from bleeding in the kidneys or bladder)
Blood in the stool (from bleeding in the intestines or stomach)

Bleeding in the joints is the most common problem in persons with severe haemophilia. Bleeding often occurs without an injury. It can go on for days if not treated. However, people with haemophilia can learn to recognise early symptoms of bleeding in the joints and get treatment quickly. Early treatment can help limit damage to the joints.

Although bleeding can occur in any joint, the most common places are the:
Knees
Elbows
Ankles

The signs and symptoms of bleeding in the joints are:
Tightness in the joint with no real pain is usually the first sign.
Tightness and pain may occur before any visible signs of bleeding.
The joint becomes swollen and hot to touch as time passes. Bending or extending the joint is painful.
Swelling continues as bleeding continues, and all movement in the joint is lost. Pain can be severe.
The bleeding slows after several days when the joint is full of blood.

If not treated, the bleeding can lead to disabling arthritis in the joints.

Bleeding in the brain, a very serious complication of haemophilia, requires emergency treatment. This bleeding can happen after a simple bump on the head or a more serious injury. The signs and symptoms are:

Long-lasting painful headaches
Vomiting many times
Changes in behaviour or being very sleepy
Sudden weakness or clumsiness of the arm or leg
Neck pain or stiffness
Double vision
Difficulty walking
Convulsions or seizures




 


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