What is Hemophilia

Hemophilia is an X-linked genetic disorder caused by a missing or mutated factor VIII or factor IX (both these are clotting proteins). Hemophilia is passed on from mother to son where females are the carriers. Hemophilia affects nearly 1 in 5000 males worldwide. In rare cases, females are also affected.

Factor VIII deficiency is known as Hemophilia A and Factor IX deficiency is known as Hemophilia B. Hemophilia A is more common than Hemophilia B.

Hemophilia is a condition that prevents blood from clotting normally. Clotting is essential to stop bleeding wounds and injuries. People with hemophilia lack the clotting factor in blood which is essential to control bleeding. This means that people with hemophilia bleed faster and longer. Uncontrolled bleeding either through external wounds and injuries or internal injuries can lead to loss of consciousness, coma and even death.

Hemophilia is a bleeding disorder affecting the production of clotting protein
Image source: Pixabay


Hemophilia can be mild, moderate or severe depending on the amount of clotting protein produced in the body.

  • Mild hemophilia - 6-50% of the clotting protein is produced in the body
  • Moderate hemophilia - 2-5% of the clotting protein is present
  • Severe hemophilia - less than 1% of the clotting protein is present

Signs and Symptoms

A baby/child/young adult with hemophilia may present with mild to moderate symptoms. Uncontrolled bleeding can occur after injections, minor cuts or falls. Some important signs and symptoms include:

  • bruising on the skin which varies between red to bluish or purple
  • sudden bleeding from the nose or gums
  • bleeding in joints or muscles which can lead to complaints of swelling, pain and stiffness
  • red-colored urine caused by blood (hematuria)


simple blood test can diagnose Hemophilia
Image Source: Pixabay

If your pediatrician or physician suspects hemophilia because the child bleeds excessively or has unexplained bruises, he/she may recommend a range of blood tests. Some of the blood tests include: Complete Blood Count (CBC).

  • Prothrombin time (PT) which measures the rate of blood clotting
  • Activated Partial Thromboplastin Time (PTT) which again measures how long it takes for blood to clot
  • Factor VIII and Factor IX test

While the above tests may suffice to get an initial diagnosis of hemophilia, DNA testing for the child and mother is recommended to confirm the genotyping. DNA analysis is also absolutely necessary for prenatal testing.

Please see list of specialized genetic testing centres

Treatment and Management

The only permanent cure for hemophilia is liver transplant. However, scientific advances have made possible a quality life with effective prophylactic factor treatment. Bleeding episodes can be managed with timely factor interventions. The right quantity of factor with quick interventions can prevent complicated bleeding episodes and permanent damage to tissues, organs and bones. According to the World Hemophilia Federation, globally there are around 400,000 people with hemophilia and only about 25% of these patients receive timely interventions and treatment. The WHF aims at improving access to hemophilia treatment.

haemophilia treatment
Prophylactic factor treatment is effective in managing hemophilia
Image Source: Pixabay

Factor replacement therapy -factor concentrates (VIII and IX) are the best treatment choices for hemophilia. These are usually made from human plasma (from blood) or lab-made genetically engineered cell carrying the human factor gene (recombinant factors). Factor concentrates are pharma products which have gone through a stringent manufacturing process to remove or inactivate blood-borne viruses.

Cryoprecipitate - is sourced from blood and has a high level of factor VIII. However, it does not contain factor IX. It is a good measure for joint and muscle bleeds. The only issue with blood-derived products is viral contamination.

Fresh frozen plasma - the red blood cells are removed from the plasma leaving the protein clotting factor VIII and IX. It is not as effective as factor replacement therapy since it requires large volume of plasma. Testing is also needed to rule out blood-related viruses. In some countries, fresh frozen plasma is still the only treatment available.

Factor replacement therapy
Factor replacement therapy is the best mode of treatment
Image Source : Pixabay

Treating an external bleed - Most children or even adults with hemophilia cannot avoid minor cuts, scrapes and wounds. It is important to take care of bleeding wounds with immediate first aid. The wound must be rinsed clean and antiseptic applied. A pressure bandage must be applied to stop bleeding followed by factor replacement therapy. The dressing must be changed frequently to avoid infections. If tetanus vaccine is not already given, it must be given immediately.

Treating an internal bleed - Internal bleeds are more complicated and need immediate treatment. Do not attempt to apply pressure on any internal bleed. Immediate factor replacement therapy is a must to stop the internal bleed.

Rush to the emergency if the person is losing orientation and consciousness. In some bleeds like joint bleeds, ice packs can be applied to soothe the pain. Do not allow joints to bleed continuously. Hemarthosis can lead to permanent damage of joints and might warrant knee/hip replacements if it worsens.

Preventing bleeds - There are some measures which can be taken to prevent frequent bleeding.

  • Regular exercise - keeping up an exercise regimen can strengthen muscles and prevent frequent bleeds. However, stressful sports are not recommended as it puts pressure on the joints. Swimming is a safe, healthy exercise for children and adults with hemophilia.
  • Healthy body weight - maintaining an ideal body weight ensures that the joints are not pressurized. Eat healthy foods and exercise to ensure optimal weight.
  • Dental care - is an important part of hemophilia care as dental issues can lead to severe bleeding. Brushing and flossing regularly and visiting the dentist is a must for all children and adults with hemophilia.

Complications of hemophilia

Complications of hemophilia arise due to multiple factors. Frequent internal bleeds can often damage vital organs, bones and joints. Some of the complications include:

  • Development of inhibitors - many hemophilia patients go on to develop inhibitors which are due to the body’s immune response to hemophilia medications. The immune system develops antibodies which inhibit or stop clot formation by destroying the medication before it can stop bleeding. Some children and adults with inhibitors may respond to higher doses of clotting factor whereas in some case it is better to use a “bypassing agent” which bypasses the factor blocked by the inhibitor to enable clot formation. Currently there is one FDA-approved bypassing agent for those with inhibitors. FEIBA has been FDA-approved for prophylaxis for hemophilia A and B patients who have developed inhibitors.
  • Life-threatening bleeds - are large or deep bleeds usually internal. These bleeds may be in the brain, stomach, lungs, eye. Such bleeds require immediate attention and hospital care.
  • Joint damage - is a frequent complication in hemophilia. Joint bleeds lead to swelling, pain and mobility issues. Muscle bleeds can cause permanent nerve damage because the bleed and swelling puts pressure on the nerve. Synovial joints are often targets of repeated bleeds and such bleeds destroy the synovium and lead to synovitis. Synovitis is painful and often restricts fluid mobility. Eventually this can lead to painful arthritis requiring joint replacements.


Gene therapy has great promise for curing hemophilia. Researchers at the Barts Health NHS Trust and Queen Mary University of London treated participants with haemophilia. A with a single dose of gene therapy. These participants have been effectively cured and produce the missing factor.

Other trials in gene therapy using the AAV-vector (adeno-associated vector) have shown promising results and new hopes of a permanent cure.

Gene therapy has immense potential to cure Hemophilia
Image Source: Pixabay

Other clotting and platelet disorders

  • von Willebrand disease - is another bleeding disorder where the patient does not have enough of the von Willebrand Factor (VWF) which helps control bleeding. People with Von Willebrand either do not have sufficient VWF or the factor does not work normally. von Willebrand is not as serious as other bleeding disorders and many people are not diagnosed since the symptoms are very mild. There are three types of von Willebrand based on severity: Type 1, Type 2 and Type 3. Type 1 is the most common with mild symptoms. Type 2 is moderate and Type 3 is the most severe requiring treatment with factor.
  • other factor deficiencies like factor X, XI, XII. Little is known about these other disorders and treatment depends on the severity
  • platelet disorders refer to conditions where the platelets do not work in the normal manner resulting in excessive bleeding and bruising. Disorders like Bernard-Soulier syndrome, Glanzmann thrombasthenia and Storage Pool deficiencies are platelet disorders. Patients with platelet disorders may require frequent and repeated platelet transfusions based on the frequency and intensity of bleeding episodes.

Living with Hemophilia

Children and adults with hemophilia can lead normal, productive lives with regular prophylactic factor support. It is a misconception that people with hemophilia have restricted lives. Children go to school, engage in play and other sports and participate in most activities. While one needs to be careful and avoid unnecessary falls and wounds, it does not mean that they cannot participate in most life activities.

Look up our list of patient organizations in India for help and support

Prenatal Testing and Hemophilia

If there is a known case of hemophilia or other bleeding disorders in the family, it is absolutely essential for closest relatives like siblings, uncles, aunts and cousins to test for carrier status.

If a woman with a carrier status is pregnant, prenatal test is essential to determine if the fetus has the bleeding disorder.

Look up our list of clinical geneticists and testing centres in India for help and support

Mail us on namitha@strandlf.org if you require any further information or want to contribute a resource for this page

Article Links: