Haemophilia

Haemophilia is a genetic condition that causes abnormal bleeding. If you have haemophilia, you will need treatment and ongoing care from a team of health professionals. Haemophilia is a bleeding disorder caused by a gene mutation. If you have haemophilia, your blood doesn’t clot properly, which makes it difficult to control bleeding.

When a blood vessel is injured, special proteins in your blood called ‘clotting factors’ act to control blood loss by plugging or patching up the injury. People with haemophilia have lower than normal levels of a clotting factor.

There are two types of haemophilia.

  • Haemophilia A (also called classical haemophilia) is the most common type. It is caused by lack of clotting factor 8, which results from a mutation in gene F8.
  • Haemophilia B (sometimes called Christmas disease) is caused by lack of clotting factor 9, which results from a mutation in gene F9.

Some people have mild haemophilia, while others are more severely affected.

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Hemophilia A is caused by a mutation in the gene for factor VIII, so there is deficiency of this clotting factor. Hemophilia B (also called Christmas disease) results from a deficiency of factor IX due to a mutation in the corresponding gene.

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A process in your body that’s known as “the coagulation cascade” normally stops bleeding. Blood platelets coagulate, or gather together at the wound site, to form a clot. Then the body’s clotting factors work together to create a more permanent plug in the wound. A low level of these clotting factors or the absence of them causes bleeding to continue.

Hemophilia A and B are more common in males than females because of genetic transmission.

Hemophilia C is an autosomal inherited form of the disease, meaning that it affects males and females equally. This is because the genetic defect that causes this type of hemophilia isn’t related to sex chromosomes. According to the Indiana Hemophilia and Thrombosis Center, this form of the disease most commonly affects people of Ashkenazi Jewish descent, but it may affect other ethnic groups as well. In the United States, hemophilia C affects about 1 in 100,000 people.

The extent of your symptoms depends on the severity of your factor deficiency. People with a mild deficiency may bleed in the case of trauma. People with a severe deficiency may bleed for no reason. This is called “spontaneous bleeding.” In children with hemophilia, these symptoms may occur around age 2.

Spontaneous bleeding can cause the following:

  • blood in the urine
  • blood in the stool
  • deep bruises
  • large, unexplained bruises
  • excessive bleeding
  • bleeding gums
  • frequent nosebleeds
  • pain in the joints
  • tight joints
  • irritability (in children)

Hemophilia is diagnosed through a blood test. Your doctor will remove a small sample of blood from your vein and measure the amount of clotting factor present. The sample is then graded to determine the severity of the factor deficiency:

  • Mild hemophilia is indicated by a clotting factor in the plasma that’s between 5 and 40 percent.
  • Moderate hemophilia is indicated by a clotting factor in the plasma that’s between 1 and 5 percent.
  • Severe hemophilia is indicated by a clotting factor in the plasma of less than 1 percent.

Your doctor can treat hemophilia A with a prescription hormone. This hormone is called desmopressin, which they can give as an injection into your vein. This medication works by stimulating the factors responsible for the process of blood clotting.

Your doctor can treat hemophilia B by infusing your blood with donor clotting factors. Sometimes, the factors may be given in the synthetic form. These are called “recombinant clotting factors.”

Your doctor can treat hemophilia C using plasma infusion. The infusion works to stop profuse bleeding. The deficient factor responsible for hemophilia C is only available as a medication in Europe.

You can also go to physical therapy for rehabilitation if your joints are damaged by hemophilia.

Hemophilia is a condition that’s passed from a mother to her child. When you’re pregnant, there’s no way of knowing whether your baby has the condition. However, if your eggs are fertilized in a clinic using in vitro fertilization, they can be tested for the condition. Then, only the eggs without hemophilia can be implanted. Preconception and prenatal counseling can also help you understand your risk of having a baby with hemophilia.

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