Hemophilia : an overview


Hemophilia is a rare, genetic bleeding disorder in which our body's blood does not clot properly after an injury. It becomes difficult to stop bleeding after an injury or operation, which can be fatal. It mainly affects males, but females also act as carriers of this gene, who can further pass it on to their children. Blood in our body contains many factors called clotting factors which help the blood to clot. The lower the amount of these factors in a person, the more serious the condition of hemophilia in his body, which will lead to more bleeding, which can be fatal.

People with hemophilia have low levels of factor 8 and factor 9.

"World Hemophilia Day is celebrated every year on 17th April to bring awareness among the people."

Hemophilia : an overview

Causes of Hemophilia
Hemophilia is a disorder caused by a genetic mutation that affects the production of clotting factors in the blood. Due to which bleeding does not stop due to injury.

There are two types of hemophilia -

  1. Hemophilia A : It is caused by a deficiency of clotting factor VIII.
  2. Hemophilia B : It is caused by a deficiency of clotting factor IX.

Both types of hemophilia are inherited in an X-linked recessive pattern, meaning that the defective gene is carried only on the X chromosome. Males have one X chromosome and one Y chromosome, while females have two X chromosomes. Therefore, males are more likely to have hemophilia because they have one X chromosome, while females have two X chromosomes, so they only work as carriers.

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Symptoms of Hemophilia
Hemophilia can cause a variety of symptoms. These symptoms are based on how serious its condition is. Some of its distinctive features are as follows -

  1. Hemophilia is characterized by heavy bleeding, even from small cuts and scratches, that is frequent and prolonged.
  2. Bleeding into the joints can cause swelling and discomfort.
  3. People with hemophilia may bruise easily and often.
  4. People with hemophilia may have blood in the stool or urine as a result of internal bleeding.
  5. Hemophilia can result in frequent and prolonged nose bleeds.

Diagnosing Hemophilia
Hemophilia can be diagnosed through a combination of medical history, physical examination, and blood tests. In this, the doctor asks about the patient's symptoms and his family history related to bleeding disorders. They perform a physical examination of the patient to detect signs of bleeding and joint damage.

Blood tests are done to measure the levels of clotting factors in the blood. By which hemophilia can be diagnosed. If the levels are low, the doctor may order further tests to determine the type and severity of hemophilia.

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Treatment of hemophilia
The main aim of treatment of hemophilia is to prevent and control any bleeding episodes. Here are some common remedies by which we can do this -

1.  Replacement therapy: In this, doctors replace clotting factors. To replace this, coagulation factors are introduced into the bloodstream of the patient's body.

2.  Desmopressin: This drug is used in mild cases of hemophilia A. This stimulates the release of clotting factors into the patient's bloodstream.

3.  Antifibrinolytic drugs: These drugs can help prevent the breakdown of blood clots.

4.  Gene therapy: Under gene therapy, doctors replace the faulty gene with a healthy gene, which makes it easier for the patient to produce the missing clotting factors.

Hemophilia is a hereditary disorder so there is no way to prevent it from happening. But through genetic counseling, families can understand the risks and make further decisions.

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