What is Haemophilia?

Haemophilia is a genetic disorder that mars the process of blood clotting. Blood is one of the most vital components for proper functioning of the body. When there is any injury or cut, it bleeds and clots on its own owing to the fibrin protein that works with platelets in the blood that controls the bleeding. When blood does not clot properly, it can cause bleeding disorder called Haemophilia.

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People suffering from Haemophilia do not have the fibrin protein in their body known as a clotting factor. This protein works with the platelets and stops the bleeding from the wound. This results in bleeding in the person for a longer duration after the injury has occurred and they are prone to bleeding in the internal regions, easy bruising, as well as increased risk of bleeding in the joints or the brain. Males are mostly affected by Haemophilia as the gene is passed on from mother to her son. It is fatal and it can affect any vital organ of the body. However, Haemophilia is still very rare; approximately 20,000 people are suffering from Haemophilia in the United States.

What is Haemophilia?

Types of Haemophilia

There are 2 main types of Haemophilia-

  1. Haemophilia Type A refers to the lack of clotting factor VIII. Around 80% of the Haemophilic cases suffer from this type and out of this, 70% of them have a severe form of Haemophilia.
  2. Haemophilia Type B is also known as the Christmas disease where the patient lacks the clotting factor IX. From about 20,000 males born around the world, every 1 person is the sufferer of this disorder.[1]

Depending upon the amount of clotting factor available in the blood, both A & B can be mild, moderate, or severe. Ranging from 5% to 40% of normal clotting factor is mild, 1-5% is considered moderate, and less than 1% is severe.

Causes of Haemophilia

If a person is suffering from Haemophilia, the way blood clots are not normal. It is due to the fact that a person is born with Haemophilia as it is inherited. The reason for this inherited disorder is that there is a defect in one of the genes in the X chromosome responsible for clotting factor. It is passed on from mother as generally, males do not have a second X chromosome and thus, are not able to fix the one that is defective. Females possess XX chromosomes while males possess XY chromosomes. Females are generally the carrier of Haemophilia, but not the sufferer of the same. Females only suffer from Haemophilia if they have an abnormal gene of X chromosomes which rare.

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In some cases, Haemophilia occurs due to a spontaneous genetic mutation. It might also develop due to the formation of antibodies in the blood due to which the blood stops the clotting factor and it does not work.

Symptoms of Haemophilia

The most common symptoms of Haemophilia are excessive bleeding as well as quick bruising. Depending upon the reduction in the degree of clotting factors in the blood, the severity of symptoms takes place in the human body.

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  • Bleeding can occur both internally as well as externally.
  • Excessive external bleeding is a result of a wound, cut, bite, or a dental injury.
  • Nosebleeds on a spontaneous basis are very common.
  • Even after the bleeding has previously ceased, there still may be prolonged or continuous bleeding.
  • There may be excessive bleeding in the internal regions observed in the stool or urine.
  • There might be excessive bleeding internally due to large and deep bruises.
  • Bleeding is also possible within joints like knees and elbow which causes them to become swollen. It also becomes hot to touch and painful to move.
  • Because of a bump on the head, the person may experience bleeding in the internal regions if he is suffering from Haemophilia.
  • The gums start bleeding easily.

Rest of the common symptoms of Haemophilia are a headache, stiffness in the neck, vomiting, clumsiness, problem in vision, paralysis, seizure, lethargic behavior, change in the mental state like the emergence of confusion, speech disorder, or loss in balance.

When to Seek the Doctor’s Advice in Haemophilia?

If one of the following things occurs, it is time to show a physicist to get treated in a timely manner –

  • The person gets bruised easily and the bleeding once starts, does not stop.
  • There are symptoms of joints bleeding and a tingling pain or stiffness in it.
  • There is a family history of Haemophilia.
  • The person is trying to have a baby or is already pregnant.

Diagnosis of Haemophilia

The main key to diagnose Haemophilia is the patient’s medical history as well as blood tests. If a person thinks that he is suffering from Haemophilia or has a lot of bleeding problems, the first thing that is asked by the physician is regarding the family as well as personal medical history which helps identify the cause. After the history has been taken, a physical examination is carried out.

If there is no case of Haemophilia in the family history, the tests are generally carried out when the child starts walking or crawling.

Blood test helps to identify the time taken by the blood to clot itself, the level of the clotting factors and which clotting factors are missing if there are any.

With the help of the results of the blood test, the physicist is able to find out the rigor as well as the type of Haemophilia. Although, the mild degree of Haemophilia may be diagnosed only after an injury has occurred or a dental or surgical procedure has been conducted on the individual.

In the women who are pregnant and carries Haemophilia, the doctor is able to diagnose the presence of the disorder in the fetus after 10 weeks of pregnancy. And if a woman is trying to get pregnant and there is a presence of a family history of Haemophilia, there is a need of gene test as well as counseling that can help determine the risk of passing the disorder to the child that would be coming in the world. It is done through the test of a sample of the tissue or blood so that the doctor is able to check out for the symptoms of the genetic mutation that is responsible for Haemophilia.[2] The tests are –

  • Chorionic Villus Sampling where the sample of the placenta is taken and tested for the presence of the gene of the disorder.
  • Amniocentesis where the sample of amniotic fluid is tested during 15-20 weeks of pregnancy.

However, the above tests may cause miscarriage or premature labor and thus, it is important to consult with the personal doctor before undergoing them.

Treatment for Haemophilia

There is no actual cure for Haemophilia but the treatment helps the person to have a good quality of life without any further complications.

There are some genetically engineered clotting factor doses that assist in the prevention and treatment of the extended bleeding. These medicines are given in the form of injections and not tablets.

When the case is mild, the medicines are only injected in case the bleeding is going on for long whereas if the case is a severe one, injections are given on a regular basis to prevent the bleeding altogether.

Haemophilia is also treated with the help of a replacement therapy where those clotting factors are replaced or given that are low or absent in the patient through injections or intravenous. The clotting factor treatments can be either derived from the blood or synthetically produced, called recombinant clotting factors, in a laboratory.[2] The synthetically produced factors are preferred as they reduce the risk of transmission factors.

  • Patients with severe disorder require Prophylactic Therapy, i.e., replacement therapy on a regular basis to prevent the bleeding from taking place.
  • Treatment for mild Haemophilia includes Desmopressin, injecting a man-made hormone that incites the discharge of clotting factor VIII, and antifibrinolytic medicine that helps in preventing the clots from breaking down.
  • FDA approved Rixubis, a purified protein for patients suffering from Haemophilia B which is formed through the recombinant DNA technology. It aims at the prevention as well as control excessive bleeding as it replaces the clotting factor that is missing or low in the patients.
  • It is possible that in the future, gene therapies would be available which might be the best treatment possible.

References:  

  1. Coppola, A. Treatment of hemophilia: a review of current advances and ongoing issues. Journal Of Blood Medicine, (2010).183. doi: 10.2147/jbm.s6885
  2. Franchini, M., & Mannucci, P. Past, present and future of hemophilia: a narrative review. Orphanet Journal Of Rare Diseases, (2012). 24. doi: 10.1186/1750-1172-7-24
Sheetal DeCaria MD

Written, Edited or Reviewed By:

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Last Modified On: August 1, 2019

This article does not provide medical advice. See disclaimer

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