HEMOPHILIA

HEMOPHILIA 

Hemophilia is an inherited bleeding disorder in which a person lacks or has low levels of “clotting factors”. And as a result, the blood does not clot properly which leads to excessive bleeding. There are 13 types of clotting factors, and these work with platelets to help in formulation of blood clot. According to the World Federation of Hemophilia 9WFH) about one in 10,000 people are born with this disease. People with hemophilia bleed easily, and the blood takes a longer time to clot. People with hemophilia can experience spontaneous or internal bleeding and often have painful, swollen joints due to bleeding into the joints. This rare but serious condition can have life-threatening complications. 

Causes 

A process in body that is known as “the coagulation cascade” normally pools blood cells together to form a clot to stop bleeding. Blood platelets (platelets and plasma proteins) 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. Hemophilia occurs when there is a low level of these clotting factors or the absence of them causes bleeding to continue. Hemophilia is inherited. However, about 30 % of people with hemophilia have no family history of the disorder. In these, people hemophilia is caused by a genetic change (spontaneous mutation). The three forms of hemophilia are hemophilia A, B and C, and these are classified according to which clotting factor is deficient: 

Hemophilia A : is the most common type of hemophilia, and it is caused by a deficiency in factor VIII. According to the National Heart, Lung and Blood Institute (NHLB), eight out of ten people with hemophilia have hemophilia A. 

Hemophilia B: Hemophilia B is also called Christmas disease, which is caused by a deficiency of factor IX. 

Hemophilia C: Hemophilia C is a mild form of the disease caused by a deficiency of factor XI. People with this rare type of hemophilia often do not experience spontaneous bleeding. Haemorrhaging typically occurs after trauma or surgery.

Risk Factors 

• 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 is not related to sex chromosomes. 

Symptoms of Hemophilia 

The extent of symptoms depends on the severity of clotting 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. 

Emergency signs and symptoms of hemophilia include: 

• Sudden pain, swelling and warmth in large joints, such as knees, elbows, hips and shoulders, and in arm and leg muscles

• Bleeding from an injury, especially in severe form of hemophilia

• Painful, prolonged headache

• Repeated vomiting

• Extreme fatigue

• Neck pain

• Double vision

Complications

• Deep internal bleeding: Bleeding that occurs in deep muscle can cause limbs to swell. The swelling may press on nerves and lead to numbness or pain.

• Damage to joints: Internal bleeding may also put pressure on joints, causing severe pain. Left untreated, frequent internal bleeding may cause arthritis or destruction of the joint.
• Infection: People with hemophilia are likelier to have blood transfusions, increasing their risk of receiving contaminated blood products. Blood products became safer after the mid- 1980s due to screening of donated blood for hepatitis and human immunodeficiency virus (HIV). The risk of infection through blood products also has decreased substantially since the introduction of genetically engineered clotting products (recombinant factor concentrates). 

• Adverse reaction to clotting factor treatment: In some people with hemophilia, the immune system has a negative reaction to the clotting factors used to treat bleeding. When this happens, the immune system develops proteins (known as inhibitors) that inactivate the clotting factors, making treatment less effective. 

Treatment 

While there is no cure for hemophilia, most people with the disease can lead fairly normal lives. 

Treatment for bleeding episodes: Therapies to stop bleeding depend on the type of hemophilia:
• Mild hemophilia A: Slow injection of the hormone desmopressin (DDAVP) into a vein can stimulate a release of more clotting factor to stop bleeding.Occasionally, DDAVP is given as a nasal medication. 

• Moderate to severe hemophilia A or hemophilia B: Bleeding may stop only after an infusion of recombinant clotting factor or clotting factor derived from donated human blood. 

• Hemophilia C: Clotting factor XI, the factor missing in this type of hemophilia, 

plasma infusions are needed to stop bleeding episodes. Patients with Hemophilia C do not generally bleed spontaneously.