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Haemophilia – Causes and Symptoms 

Haemophilia

Haemophilia and von Willebrand disease (VWD) are bleeding disorders caused by missing or inadequate blood-clotting factors.

Clotting factors are specialised proteins that circulate in the bloodstream and help to keep bleeding under control. Clots are formed when these components work together in a chain reaction. Clotting may be difficult if any of these factors are missing or insufficient. Haemophilia is a blood-clotting disease in which blood does not clot properly.

A genetic mutation causes Haemophilia. One of the most pivotal components for the body’s proper functioning is blood due to the presence of the fibrin protein, which works with platelets to restrict bleeding. Hence any cut or injury bleeds is observed, the blood clots on its own.

Types of Haemophilia

Haemophilia affects people of all ages.

There are two basic types of Haemophilia: 

  • Haemophilia A 
  • Haemophilia B
  • Haemophilia C or Rosenthal syndrome 

As Haemophilia is a recessive genetic illness connected to the X chromosome, the vast majority of persons affected are men. Women, on the other hand, will almost be carriers.

However, some women may be Hemophilics due to a variant of Haemophilia that is not linked to the X-chromosome (Haemophilia C). Inherited factor XI (FXI) deficiency is also known as Haemophilia C or Rosenthal syndrome. 

The absence of clotting factor VIII is known as Haemophilia A. This type affects around 80% of Haemophilic patients, with 70% suffering from a severe version of the disease.

Haemophilia B, or the Christmas disease, is a kind of Haemophilia in which the patient lacks the clotting factor IX and is a rare type of Haemophilia.

How does Haemophilia occur?

Haemophilia is a genetic disease, which means it is inherited from parents to children through the generations.

In this section, the heredity associated with Haemophilia A and B is recessive inheritance linked to the X chromosome.

Both males and females have the X chromosome, a sex chromosome. To define their sex, males have one copy of the X chromosome and one copy of the Y (XY) chromosome, whereas females have two copies of this (XX) chromosome.

Because Haemophilia is a recessive genetic disorder, a woman must inherit both sex chromosomes from her parents with the Haemophilia mutation to develop the disease.

If the lady only gets one X chromosome with the mutation, she will be a carrier with no symptoms.

Instead, men with the Haemophilia mutation on their X chromosome are Haemophiliacs.

This is why men are more likely to develop Haemophilia than women, although women are more likely to be carriers of the mutation. On the other hand, some women with Haemophilia only have modest symptoms.

Symptoms of Haemophilia

The three levels of severity in Haemophilia include mild, moderate and severe. 

The severity level is based on how much clotting factor is present in the blood. The normal range of factor VIII and factor IX in a person’s blood is 50-150%.

According to National Health Portal, NHP India, the percentage of clotting factors for the types of Haemophilia are mentioned below,

Types of Haemophilia Normal clotting factor  Symptoms 
Mild Haemophilia  40% of factor VIII or IX  bleeding problems occur only after teeth are extracted, surgery, a severe injury, or an accident  may not result in bleeding 
Moderate Haemophilia 1-5% of factor VIII or IXmay experience bleeding difficulties after having teeth extracted, surgery, or a major injury or an accident may experience bleeding problems after minor injuries, such as sporting injuries, which seldom bleed for no apparent reason. 
Severe Haemophilia less than 1 % of factor VIII or IXbleeds into joints, muscles and soft tissues frequently can bleed for no apparent reason after surgery, dental procedures or injuries, such as mild bumps or knocks  

Diagnosis of Haemophilia

During the diagnosis, the doctor will enquire the patient about the history of bleeding and information on any family history relative to the bleeding problems. This reveals the bleeding problems of you and your family members.

Some families with Haemophilia may have a family history of the disease. The doctor will conduct a physical examination to determine the condition of the joints. Then, to diagnose Haemophilia, specific blood tests are performed. These include baseline screening tests such as PT (prothrombin time) and APTT (partial thromboplastin time, also known as APTT or activated partial thromboplastin time), which measure the coagulation time of blood.

If the APTT is prolonged, as in haemophilia, a more specified test is performed to determine the presence of factor VIII (8) or IX (9) deficiency and the level of factor present. These tests will reveal whether or not Haemophilia is present, the type of Haemophilia (A or B), and the severity of the disease. The doctors will advise you on treatment and precautions once they have all of this information.

Haemophilia Treatment

The disorder’s type and severity determine the treatment. The main treatment for severe Haemophilia is to replace the clotting factor you require via a vein tube.

This replacement therapy can be used to treat an ongoing bleeding episode. It can also be administered regularly at home to help prevent bleeding episodes. Some people are advised for continuous replacement therapy. Donated blood can be used to make replacement clotting factors.

You can opt for replacement therapy (on a regular basis) to prevent bleeding problems. This is known as preventive or prophylactic therapy. Or, you may go for the replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy.

Demand therapy seems to be less intensive and expensive than preventive therapy. However, there’s a risk that bleeding will cause damage before you receive the demand therapy.

In addition, there is a list of other Haemophilia treatments as mentioned below:

Using Desmopressin

This hormone can stimulate the body to produce more clotting factors in some cases of mild Haemophilia. It can be injected slowly into a vein or sprayed using a nasal spray.

Emicizumab (Hemlibra) medication

 This is a newer medication that does not contain clotting factors. In people with Haemophilia A, this medication can help prevent bleeding episodes.

Medications that prevent clotting

Usage of antifibrinolytics aid in the prevention of clot formation.

Sealants based on fibrin

These can be directly applied to wounds to promote clotting and healing. Fibrin sealants are particularly beneficial for dental treatments.

Physical therapy

If internal bleeding has damaged your joints, it can help to alleviate the signs and symptoms. Surgery may be recommended in severe damage cases.

First aid for minor cuts 

In most cases, applying pressure and wrapping the wound with a bandage will stop the bleeding. Apply an ice pack to small areas of bleeding beneath the skin. Ice pops can help to stop minor bleeding in the mouth.

Conclusion

People with Haemophilia can expect to live a relatively normal life if they are educated about their condition and receive adequate treatment. 

If you have Haemophilia, you may bleed for a longer period of time after an injury than if your blood clotted normally. Your family members should also learn to look for signs of bleeding in a Haemophiliac adult or child. Children at times ignore signs of bleeding as they want to avoid the discomfort of treatment.

 In Conclusion

Haemophilia, a life-long condition, is a genetic blood-clotting disorder that is passed down down the generations. It is caused by a lack of clotting factors in the blood. People with Haemophilia tend to bleed internally into their joints and muscles due to a lack of clotting factors. Medical ID tags can be worn as a bracelet, neck chain, or on clothing, are recommended for people with Haemophilia to inform people that you have Haemophilia and may require immediate medical assistance in an emergency circumstance.

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