World Haemophilia Day

World Haemophilia Day UNDERSTANDING HAEMOPHILIA Those who are familiar with M. Night Shyamalan’s superhero thriller ‘Unbreakable’ would also know the medical condition with which the film’s antagonist was affected. For those who don’t, it is a disease in which bones break easily. Haemophilia is a somewhat similar condition where a simple cut or scratch may result in a lot of bleeding. This happens because of the body’s inability to control blood clotting or coagulation. The most common form of the disease is Haemophilia
A wherein the deficiency of clotting factor VIII, a blood clotting protein also known as anti-haemophilic factor (AHF), is responsible for the bleeding disorder. The other form known as Haemophilia B results from a deficiency of clotting factor IX.
IS IT TRANSMISSIBLE?
Haemophilia is not a transmissible disease. On the contrary it a hereditary gene disorder and males are most are likely to be affected by it. Since the defective gene is associated with the X chromosome and males have only one such chromosome the disease manifests in them. Females on the other hand are usually the carriers of the defective gene, as they have two X chromosomes and it is least likely that both the copies will have the same defect. Also, one-third of the new cases occur without a previous family history of the disease, wherein it is caused by a new mutation of the gene in the mother or the child. Haemophilia manifests as frequent and spontaneous bleeding episodes in joints or tissues. Most of the bleeding occurs internally. A person with haemophilia doesn’t necessarily bleed faster than normal people. Instead the bleeding continues for a longer period. Internal bleeding can lead to stiffness, pain, severe joint damage, disability, and sometimes death.
SIGNS AND SYMPTOMS
The usual symptoms of the disease varies with the severity. Some of the characteristic symptoms are:

  • Big bruises
  • Bleeding into muscles and joints, especially the knees, elbows, and ankles
  • Sudden bleeding inside the body for no clear reason
  • Prolonged bleeding after a cut, tooth removal, surgery, or an accident
  • Serious internal bleeding into vital organs, most commonly after a serious trauma

PREVENTING HAEMOPHILIA
There is an extensive choice offered by modern techniques such as DNA technology which can help couples in family planning. Preventive health screening in the form of carrier detection (CD) and prenatal diagnosis (PND) can prove to be effective means of combatting the disease. When there is a family history of haemophilia it is not possible to identify accurately most females who carry the haemophilia gene. However, women who know they are carriers may have options for prenatal diagnosis to obtain information of foetal status.

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