• Shruti GOCHHWAL

What is Haemophilia and What Causes it?

Do you experience too much bleeding after an injury or surgery? Do you have blood clotting issues? Well! The inability of your blood to clot normally after an injury is a rare type of genetic disorder called Hemophilia.

What is Hemophilia?

It is a group of bleeding disorders that are usually inherited. In this, a person experiences excessive bleeding due to little or no amounts of a specific blood clotting factor. Even a small cut or injury may become a life-threatening disorder in haemophilia. There are 13 types of blood clotting factors which help the blood clot by working together with the platelets. This prevents a cut or other injury from bleeding endlessly.

There are three types of haemophilia.

  1. Hemophilia A – The most common type which occurs in people due to lack or insufficient amounts of clotting factor VIII. Most people with haemophilia A observe the full extent of the disease, including symptoms such as bleeding in large joints, knees or hips.

  2. Hemophilia B – Also known as Christmas disease. It results due to deficiency in functional plasma coagulation factor IX.  The range of its severity depends on the amount of clotting factor deficiency. It can be mild, moderate or severe.

  3. Hemophilia C–  It is an uncommon and a less severe type of haemophilia.  It results due to clotting factor XI deficiency.

Every year, April 17th is celebrated as World Haemophilia Day to promote international awareness on haemophilia and other bleeding disorders.

Symptoms:

The extent of your symptoms depends on the severity of your factor deficiency. Mild symptoms may include bleeding only after an injury or surgery. Whereas, the severely affected people may experience spontaneous bleeding. Some of the symptoms of spontaneous bleeding include:

  1. blood in the urine and in faeces

  2. may experience deep, large or unexplained bruises

  3. excessive bleeding

  4. bleeding gums

  5. Nosebleeds which are frequent

  6. Joint pains

  7. tight joints

  8. irritability

What are the Causes of Haemophilia?

  1. Deficiency in clotting factors – There are a total of 13 blood clotting factors which help coagulate blood while bleeding due to an injury. When a person is deficient in any one of these clotting factors, haemophilia occurs.

  2. Hemophilia Genetic mutation – An unexpected change or mutation in a certain gene associated with haemophilia can cause Haemophilia disorder. This change in genes is termed as a ‘spontaneous mutation’ which can occur even before you’re born.

  3. Autoimmune haemophilia- It occurs when a person’s immune system starts attacking its own clotting factors in the blood. It can be associated with:

  4. Pregnancy

  5. Autoimmune disorders like Multiple sclerosis

  6. Tumours and Cancers

  7. Genetics – Haemophilia mainly occurs due to family inheritance. The faulty gene that can cause haemophilia is located on the X chromosome. Everyone has two sex chromosomes (X & Y) inherited from each parent.

Diagnosis

Haemophilia disorder is diagnosed through a blood test. A blood sample will be taken to determine the amount of clotting factor present in your blood. The sample will then be graded according to its severity such as mild, moderate or severe.

Treatment

A prescription hormone called desmopressin is usually given to the patients suffering from Haemophilia A.  The injection is administered into the vein where the medication works by stimulating blood clotting factors.

Hemophilia B is treated by infusing donors’ clotting factors into the haemophiliac patient’s blood. These factors are also available in their synthetic form called “recombinant clotting factors.”

Haemophilia C can be treated using plasma infusion technique. This technique works by stopping profuse bleeding during an injury or surgery.

#Haemophilia

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