Hemophilia – A Blood Disorder

Queen Victoria was a carrier of Hemophilia and then it was passed to her children who were royal family’s members in Russia, Germany and Spain.

Nicholas II (Russian) suffered from Hemophilia; he was a descendant of Queen Victoria.

Hemophilia

Hemophilia is a blood disorder in which blood does not clot properly.
Bleeding disorders can be due to blood vessels defect, the coagulation or the blood platelets. A patient having Hemophilia may bleed continuously for an extended time than a healthy person after a surgery or an injury.
The blood coagulation is a process that changes the blood from liquid state to the solid state and it involves many clotting factors. This mechanism produces fibrin which combines with the platelet to stop the bleeding.
When coagulation mechanism is not effective, the blood does not clot and the bleeding continues.

Patients with Hemophilia A or B have genetic defects in them that prevents the blood clotting factors.

Types of hemophilia

Hemophilia A or B

Hemophilia A is due to the deficiency of factor VIII and Hemophilia B is caused due to the deficiency of factor IX.

Both the types are almost same as they are associated with the bleeding in the joints, muscles and internal or external bleeding after an injury or a surgery.
If the bleeding occurs repeatedly, it permanently damages the joints and muscles like ankles, knees and elbows.

Approximately 1 in 5,000 males born with Hemophilia A, 1 in 30,000 males born with Hemophilia B.

This disease can affect people of all races and ethnic origins. The conditions are X- linked so most of the sufferers are male. Female carriers may also bleed abnormally.

People with Hemophilia have a genetic change in the affected gene on X chromosome, as a result production of VIII and IX creates a bleeding capacity.

About one third of Hemophilia patients have no family history of the disease.

Development of Hemophilia

The patients develop the Hemophilia in their lifetime and mostly do not have a genetic cause. It is developed when a body forms antibodies that attack the blood clotting factors. In this way blood clotting system is affected. Patients oh Hemophilia can be male or female. This disease is associated with old age and it can complicate the pregnancy.

Causes of Hemophilia

Most of the patients are born with this disease because they have a fault with their genes due to which blood does not clot properly. These genes are located on X chromosome.

  • If female (X+X) is a carrier but does not have Hemophilia then X chromosome will produce clotting factors to prevent bleeding.
  • If male (X+ Y) develops Hemophilia it can pass on.

If father and Hemophilia and mothers do not have Hemophilia then the off springs are not a carrier.

Father (Y+X), Mother (X+X)

  • There is no risk of inheriting Hemophilia in sons because they inherit the X chromosome from the mother.
  • All the daughters will be carrier but they will not develop the disease unless it the X chromosome is inherited from the father which has the faulty gene.

If the father does not have Hemophilia and the mother has the faulty gene then

  • There is a 50% chance that sons will develop the Hemophilia because of 50% risk of son inheriting X chromosome from the mother and Y chromosome from the father and he will develop Hemophilia.
  • There will be a 50% risk that daughters will be carriers but they may not develop Hemophilia.

Types of Hemophilia

There are three types of Hemophilia depending on the blood clotting factor:

1. Mild Hemophilia
2. Moderate Hemophilia
3. Severe Hemophilia

1. Mild Hemophilia
People having mild Hemophilia may not have any symptoms but they occur when an incident happens like surgery, injury etc the bleeding get prolonged but joint bleeding is not very common.

2. Moderate Hemophilia
Moderate Hemophilia can be a bit noticeable as the child will bruise and will have prolonged bleeding and joint bleed may also occur.

3. Severe Hemophilia
People with severe Hemophilia may bleed very often for certain reasons. The nose or mouth bleeds, bruises appear on the body.

Symptoms of hemophilia

Symptoms of Hemophilia vary depending on the degree of blood clotting, deficiency and the type of injury.

Following are the symptoms of hemophilia:

  • Irritation in the joint
  • Pain in the joint
  • Joint stiffness
  • Swelling in the affected area
  • Deep bruises
  • Blood in stool
  • Blood in urine
  • Gum bleeding
  • Nose bleeding

Intracranial Hemorrhage (Bleeding inside the Skull)

About 1 in 30 patients have bleeding in the skull also known as Intracranial Hemorrhage. They should be given emergency treatment. It happens rarely.

Symptoms of intracranial hemorrhage are:

  • Headache
  • Vomiting
  • Confusion
  • Loss of balance
  • Stiff neck
  • Vision problems
  • Loss of co ordination
  • Speaking difficulties

Diagnosis of hemophilia

Prenatal testing

If a pregnant woman has Hemophilia, a Hemophilia gene test is done during pregnancy. A sample of placenta is taken from the uterus and then tested for Hemophilia. This test is known as Chronic Villus Sampling test.

Blood test

Blood test is taken to check whether the patient has Hemophilia A or B and how severe it is.

Treatment for hemophilia

Few decades ago patients with Hemophilia died of Hemophilia. Many deaths occurred due to injury or surgery but now the treatment has improved and patients can live long.

Treatment became better when the coagulation factor deficiencies linked to hemophilia.

Previously patients used to receive the whole blood to control the bleeding; it helped the blood clotting but does not sustain the level of coagulation.

The treatment of Hemophilia depends on the severity of Hemophilia and whether it is Hemophilia A or B.

One treatment is the clotting factor therapy.

Treatment of clotting factors

Clotting factor can be treated in the following way:

Plasma derived clotting factors

It prepares plasma of the human blood.

RICE (rest, ice compression evaluation)

This treatment is used for treating joints bleeding. It also reduces the swelling and the tissue damage.

Desmopressin

It is used to treat the mild Hemophilia A. this medicine encourages the body to produce its own factor VIII. In patients with mild Hemophilia A, a factor VIII replacement therapy is also required.

Medicines are also given to prevent the prolonged bleeding and muscle and bone damage etc.

There is also a medication for treating Hemophilia that is injected in the veins of the patient that helps in stopping bleeding.

Many people in the world are suffering from this Hemophilia, it cannot be cured completely but its effects can be reduced. Hemophilia is not a very dangerous disease but sometimes intense bleeding can be life threatening.

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