Hemophilia – Causes, Symptoms, Treatment


Hemophilia is an inherited bleeding disorder in which a person lacks or has low levels of “clotting factors”. And as a result, the blood does not clot properly which leads to excessive bleeding. There are 13 types of clotting factors, and these work with platelets to help in the formulation of a blood clot. According to the World Federation of Hemophilia 9WFH,) about one in 10,000 people are born with this disease. People with it bleed easily, and the blood takes a longer time to clot. People with this type of disease can experience spontaneous or internal bleeding and often have painful, swollen joints due to bleeding into the joints. This rare but serious condition can have life-threatening complications.

Fig: Haemophilia


A process in the body that is known as “the coagulation cascade” normally pools blood cells together to form a clot to stop bleeding. Blood platelets (platelets and plasma proteins) coagulate, or gather together at the wound site, to form a clot. Then the body’s clotting factors work together to create a more permanent plug in the wound. It occurs when there is a low level of these clotting factors or the absence of their causes bleeding to continue. Hemophilia is inherited. However, about 30 % of people with it have no family history of the disorder. In these, people hemophilia is caused by a genetic change (spontaneous mutation).

The three forms of hemophilia are A, B, and C, and these are classified according to which clotting factor is deficient:

Hemophilia A:

It is the most common type of hemophilia, and it is caused by a deficiency in factor VIII. According to the National Heart, Lung, and Blood Institute (NHLB), eight out of ten people with hemophilia have hemophilia A.

Hemophilia B:

 It is also called Christmas disease, which is caused by a deficiency of factor IX.

Hemophilia C:

 It is a mild form of the disease caused by a deficiency of factor XI. People with this rare type of hemophilia often do not experience spontaneous bleeding. Haemorrhaging typically occurs after trauma or surgery.

Hemophilia is an inherited genetic condition that is not curable, but it can be treated to minimize symptoms and prevent future health complications.

In extremely rare cases, hemophilia can develop after birth called “acquired hemophilia”. This is the case in people whose immune system forms antibodies that attack factors VIII or IX.

Mode of transmission of hemophilia
Fig: Mode of transmission of hemophilia

Hemophilia inheritance:

 Everyone has two sex chromosomes, one from each parent. A female inherits an X chromosome from her mother and an X chromosome from her father. A male inherits an X chromosome from his mother and a Y chromosome from his father. Hemophilia inheritance depends on the type of hemophilia:

  • Hemophilia A or B: The gene that causes them is located on the X chromosome, so it can not be passed from father to son. Hemophilia A or B almost always occurs in boys and is passed from mother to son through one of the mother’s genes. Most women with the defective gene are simply carriers and experience no signs or symptoms. Women can experience bleeding symptoms if their factor VIII or IX is moderately decreased.
  • Hemophilia C: This disorder can be passed on to children by either parent. It can occur in girls as well as boys.

Risk Factors:

  • Hemophilia A and B are more common in males than females because of genetic transmission.
  • Hemophilia C is an autosomally inherited form of the disease, meaning that it affects males and females equally. This is because the genetic defect that causes this type of hemophilia is not related to sex chromosomes.


The extent of symptoms depends on the severity of clotting factor deficiency. People with a mild deficiency may bleed in the case of trauma. People with a severe deficiency may bleed for no reason. This is called “spontaneous bleeding”. In children with hemophilia, these symptoms may occur around age 2.

Spontaneous bleeding can cause the following:

  • Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
  • Many large or deep bruises
  • Unusual bleeding after vaccinations
  • Pain, swelling, or tightness in joints
  • Blood in urine or stool
  • Nosebleeds without a known cause
  • In infants, unexplained irritability

Emergency signs and symptoms include:

  • Sudden pain, swelling, and warmth in large joints, such as knees, elbows, hips, and shoulders, and arm and leg muscles
  • Bleeding from an injury, especially in a severe form of hemophilia
  • Painful, prolonged headache
  • Repeated vomiting
  • Extreme fatigue
  • Neck pain
  • Double vision


 Complications may include:

  • Deep internal bleeding: Bleeding that occurs in deep muscle can cause limbs to swell. The swelling may press on nerves and lead to numbness or pain.
  • Damage to joints: Internal bleeding may also put pressure on joints, causing severe pain. Left untreated, frequent internal bleeding may cause arthritis or destruction of the joint.
  • Infection: People with this disease are likelier to have blood transfusions, increasing their risk of receiving contaminated blood products. Blood products became safer after the mid-1980s due to the screening of donated blood for hepatitis and human immunodeficiency virus (HIV). The risk of infection through blood products also has decreased substantially since the introduction of genetically engineered clotting products (recombinant factor concentrates).
  • Adverse reaction to clotting factor treatment: In some people with hemophilia, the immune system has a negative reaction to the clotting factors used to treat bleeding. When this happens, the immune system develops proteins (known as inhibitors) that inactivate the clotting factors, making treatment less effective.


 It is diagnosed through a blood test and measures the amount of clotting factor present. The sample is then graded to determine the severity of the factor deficiency:

  • Mild hemophilia is indicated by a clotting factor in the plasma between 5 and 40 %.
  • Moderate hemophilia is indicated by a clotting factor in the plasma between 1 and 5 %.
  • Severe hemophilia is indicated by a clotting factor in the plasma of less than 1 %.


 While there is no cure for hemophilia, most people with the disease can lead fairly normal lives.

Treatment for bleeding episodes:

  • Mild hemophilia A: Slow injection of the hormone desmopressin (DDAVP) into a vein can stimulate a release of more clotting factors to stop bleeding. Occasionally, DDAVP is given as a nasal medication.
  • Moderate to severe A or B hemophilia: Bleeding may stop only after an infusion of recombinant clotting factor or clotting factor derived from donated human blood. Repeated infusions may be needed if internal bleeding is severe.
  • Hemophilia C: Clotting factor XI, the factor missing in this type of hemophilia, plasma infusions are needed to stop bleeding episodes. Patients with it do not generally bleed spontaneously. So there is no need for prophylaxis. If recognized early, all vaccinations should be given subcutaneously because of the risk of inducing a muscle hematoma. These patients should be vaccinated against hepatitis A virus and hepatitis B virus because they have or may be exposed to plasma products as part of their treatment.
  • Clot-preserving medications (antifibrinolytics): These medications help prevent clots from breaking down.
  • Fibrin sealants: These medications can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful in dental therapy.
  • Physical therapy: It can reduce signs and symptoms of internal bleeding has damaged joints. If internal bleeding has caused severe damage, may need surgery.

First aid for minor cuts: Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.

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