Everything About Haemophilia: Causes, Symptoms, Treatments

Saran Gill

, Health A2Z

What is Haemophilia?

Haemophilia is a condition that normally stops a person’s from blood clotting ability.

Acquired Haemophilia is a rare form of the disease that occurs when the body’s immune system mistakenly attacks clotting factors.

Left untreated, Haemophilia can be life-threatening after trauma or injury. Girls and women may experience heavy periods.

Medicinal products based on genetically modified coagulation factors may be recommended for the treatment of the disease.


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Role of blood coagulation factor


A person with Haemophilia has a lower amount of blood coagulation factors as they should be present in the blood. These coagulation factors work with platelets to make blood sticky and prevent cuts or bleeding injuries. Without the presence of blood coagulation factor, they bleed longer than normal.

Bleeding disorders are due to defects in the blood vessels, the mechanism of coagulation or platelets. An affected person may bleed spontaneously or longer than a healthy person after an injury or surgery.

The mechanism of blood clotting is a process that converts the blood from a liquid to a solid and involves several different coagulation factors. The mechanism, when activated, produces fibrin, which creates platelets plug and stops the bleeding.


Source: Google

Causes of Haemophilia and role of Inheritance


Haemophilia is usually inherited and passed on by one or both parents to a child. According to the research more number of boys are affected than girls.


If there is no family history of Haemophilia, a baby will not undergo a routine condition test. However, if Haemophilia occurs in the family, specific tests can be performed on a cord blood sample to see if a newborn is suffering from Haemophilia. In fact, if the family wants it, such a test can be done before the birth of a child.


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Haemophilia is a genetic disorder associated with a defective gene on chromosome X. The chromosomes come in pairs: women have two X chromosomes, while men have one X chromosome and one Y chromosome.


A woman who has a defective gene is called a carrier: she transmits the disease and can pass it on to her children. However, in most cases, the woman has no symptoms of haemophilia. When a boy is born from a “carrier” women and an unaffected husband, the child receives an X chromosome from his mother, so it has a half chance of receiving the bad gene (and a half chance of receiving a good of the gene). Boys who receive the defective gene are haemophiles. Similarly, if a carrier wife has a daughter with an unaffected husband, the daughter has a 50% chance of receiving the defective gene and therefore will be a carrier.


Men with haemophilia do not transmit the disease to their son because son inherits a single Y chromosome from their father. However, men pass on their X chromosome to their daughters and so their daughters become a carrier.


If the father has haemophilia and the mother is a carrier, there is a possibility that the girl is haemophilic.


Types of Haemophilia


The main types of Haemophilia are Haemophilia A and B. The symptoms are the same, but the coagulation factors are different and need to be treated differently.

Patients with Haemophilia A or B have a genetic defect that causes a deficiency in one of the factors of blood clotting.

A person can be diagnosed with various levels of clotting factor:

Mild Haemophilia: 5% to 35%
Moderate Haemophilia: 1% to 5%
Severe Haemophilia: Less than 1%

Mild Haemophilia

Children born with mild haemophilia may have no symptoms for many years.

The condition usually becomes visible only after injury or major surgery or dental intervention, such as the removal of a tooth. These events can lead to abnormally prolonged bleeding.

Moderate Haemophilia

Children with moderate haemophilia are just as affected as people with mild hemophilia, and also bruises easily.

They may also have symptoms of internal bleeding around the joints, especially if they have a lump or fall affecting their joints. This is called joint bleeding.

The symptoms usually start with a tingling sensation and mild pain in the affected joint, usually the ankles, knees and elbows. Rarely can shoulder, hand and hip joints be affected.

Severe Haemophilia

The symptoms of severe hemophilia are similar to those of moderate hemophilia. Joint bleeding, however, is more common and serious.

Children with severe hemophilia have spontaneous bleeding. This means that they begin to bleed for no apparent reason.

Source: Google


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Symptoms of Haemophilia

The sign and symptoms of Haemophilia A & B are same:

  • Big heavy and excessive bruising.
  • Bleeding for a long time after an accident.
  • Bleeding from muscles and joints – Swollen, painful joints.
  • Excessive bleeding in infants and toddlers from the gums, mouth, or tongue after an injury.
  • Severe bleeding after nvasive dental procedures like tooth extractions.
  • Unstoppable bleeding after getting a cut, having surgery, or removing a tooth.

In babies, the first signs of haemophilia are usually heavy mouth bleeding caused by biting of the gums and tongue or severe bruising.

Source: Google


People with haemophilia may bleed on the inside or outside of the body, though most occur indoors, in the muscles or joints. Bleeding is often caused by a slight injury: a blow or a slight rotation of a joint.

The most common muscle bleeding occurs in the muscles of the arm and forearm, the psoasilicus muscle (the anterior part of the groin), the thigh and the calf. The most commonly affected joints are the knee, ankle, and elbow.

If the bleeding occurs several times in the same joint, the joint may be damaged and painful. This can make it difficult to run or perform simple activities.

Any bleeding in a vital area is serious, especially the brain. Brain hemorrhages are the leading cause of death due to haemophilia hemorrhage. Other examples include bleeding in the throat, neck or tongue.



If the mother is a known carrier of hemophilia, tests can be performed before a baby is born. Prenatal diagnosis can be performed between 9 and 11 weeks after Chorionic Villus Sampling (CVS) or subsequent fetal blood sampling (18 weeks and older).

When doctors suspect hemophilia in a young child, there are simple laboratory tests that can be performed at a hemophilia treatment center. A blood sample can be taken and analyzed to measure the amount of coagulation factor activity in the blood. This allows the clinician to determine if the person has a blood clotting disorder, what type of bleeding disorder they have, and how severe the severity is. Low levels of factor VIII indicate hemophilia A, while low levels of factor IX indicate hemophilia B.

Consult a doctor if you notice any of these symptoms that may be related to hemophilia:

Prolonged and uncontrollable bleeding, intense or exudative, especially after injury, vaccination or surgical or dental procedures.

Any bleeding unrelated to an injury or a specific event.

There is little risk that hemophiliacs have a bleeding in the skull. The symptoms are:

  • a strong headache
  • stiff neck
  • Vomit
  • a change of state of mind, such as confusion
  • Difficulty speaking, eg. B. Difficulty in speaking
  • Changes in vision, such as double vision
  • Loss of coordination and balance
  • Paralysis of all or part of the facial muscles


Treatments for haemophilia

Treatments for hemophilia include:

  • Reception of coagulation factors
  • Drugs
  • Treatment of bleeding and other problems related to hemophilia

The required treatments and their frequency depend on the type of hemophilia (A or B) and the severity of hemophilia. For example, if you have mild hemophilia, you may only need treatment if you have been injured or in preparation for surgery. However, if you have severe hemophilia and bleed frequently, you may need regular treatment to prevent bleeding and protect your joints from malformations and disability.

Coagulation factors for hemophilia

People with hemophilia get the corresponding coagulation factor (factor VIII or factor IX). The coagulation factor is administered intravenously (through a needle in the vein) to stop or prevent bleeding.

Medicines for hemophilia A

A drug called desmopressin may temporarily increase the concentration of factor VIII in your blood. Desmopressin is usually given by injection.

Other health problems associated with hemophilia may require treatment. The most common are:

  • Treatment of bleeding joints
  • Monitoring physical activity
  • For bleeding joints, doctors recommend resting and treating the affected joint with ice to reduce pain and swelling. When pain and swelling disappear, physiotherapy can help a person regain their mobility and joint strength.

To prevent injury and internal bleeding, physical activity control may be required. Your doctor will discuss what types of physical activity are appropriate and what types of activities are too dangerous. Your doctor’s advice depends on the severity of hemophilia.

(The information provided is not meant for any diagnostic or treatment purpose you should always take advice from a qualified healthcare professional.)


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