Haemophilia

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Haemophilia
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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.

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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.

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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
  mothers 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.

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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.

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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.

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