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What is Haemophilia, Causes and Symptoms of Haemophilia

Haemophilia

  • Posted on- May 22, 2018
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What is Haemophilia?

Haemophilia is an inherited condition in which bleeding is caused for a long time after having an injury or surgery and painful swelling of the joints can be there either after injury or even without injury.

What is the cause of Haemophilia?

Haemophilia is caused basically due to a deficiency of clotting factor and this result in increased bleeding. There are two types of Haemophilia A (clotting factor VIII deficiency), which is more common and occurs in about 1 in 5,000 births. Haemophilia B (factor IX deficiency) is less common and occurs in around 1 in about 20,000 births.

How is Haemophilia inherited?

The disease of Haemophilia is X linked and inherited from the mother, though the disease is present in males. A family history of maternal uncles or other male affected relatives on the mother’s side are often present. Though many cases are due to a new acquired mutation in the genes, and in these families, no family history is present.

In the X-linked variety of haemophilia, the inheritance is due to a defective gene on the X chromosome. All humans have X chromosomes, in females there are two X chromosomes, while males have one X and one Y chromosome.

Only the X chromosome carries the genes related to haemophilia. A male who inherits haemophilia gene on his X chromosome will suffer from haemophilia. If a female has the defective gene on one of her X chromosomes, she is a "haemophilia carrier.”

The carrier does not suffer from haemophilia, but they can pass on the disease to their sons. Their daughters do not have the disease, but they may also be carriers. As mentioned earlier, this can also occur as a new mutation in families without a history of haemophilia.

Are there different types of haemophilia?

There are two main types of Haemophilia A and Haemophilia B.

Haemophilia A patients has low levels of factor VIII (8), and Haemophilia B patients have low levels of factor IX (9). This is very important because patients can be treated with either factor VIII or IX injections. So it is important to know which factor is low, so that the right injection is given.


Symptoms

What happens in haemophilia?

Patients suffering from haemophilia bleed for a longer time than others after having any injury, injections, operations or tooth extractions. They can bleed inside (internally), and in the joints - knees, ankles, and elbows. This bleeding can damage the joints and internal bleeding (head, abdomen) may be life threatening.

Haemophilia patients bleed for a very long time after injury, and often have delayed bleeding e.g. after a few days after tooth extraction or trauma. Patients with severe haemophilia they can bleed even without injury-spontaneously, this usually occurs in severe haemophilia patients.


Treatment

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