World Haemophilia Day

Haemophilia is a rare genetic disorder that interferes with your body’s ability to clot blood. This inherited disorder roughly affects 1 in 10,000 people and can severely impair your body’s ability to stop bleeding.

Here are some interesting things you must know about this World Haemophilia Day

What Is Haemophilia?

Haemophilia is an inherited condition that causes bleeding for a long time after injury or surgery and painful swelling of the joints either after injury or even without injury. Haemophilia is a rare condition of the blood that prevents clotting during injuries. They lack a protein that contributes to clotting called Factor VIII. The clotting factor works with platelets to form blood clots, which in the case of a Hemophilic, is absent. This means that the person is more susceptible to internal bleeding and injuries over a long period of time.

India has the second largest number of Haemophilia patients.

What is the cause?

Haemophilia is due to a deficiency of clotting factor, this results in increased bleeding. There are two types of Haemophilia A (clotting factor VIII deficiency), which is more common and occurs in about 1 in 5,000 births. Haemophilia B (factor IX deficiency) is less common and occurs in around 1 in about 20,000 births.

How is it inherited?

The disease of Haemophilia is X linked and inherited from the mother, though the disease is present in males. A family history of maternal uncles or other male affected relatives on the mother’s side are often present. Though many cases are due to a new acquired mutation in the genes, and in these families, no family history is present.

What happens in Haemophilia?

Patients of Haemophilia, bleed for a longer time than others after any injury, injections, operations or tooth extractions. They may bleed inside (internally), and in the joints – knees, ankles, and elbows. This bleeding can damage the joints and internal bleeding (head, abdomen) may be life threatening.
Haemophilia patients bleed for a very long time after injury, and often have delayed bleeding e.g. after a few days after tooth extraction or trauma. Patients with severe Haemophilia they can bleed even without injury-spontaneously, this usually occurs in severe Haemophilia patients.

How Does Normal Blood Clotting Work?

When you cut or injure yourself, your body forms a blood clot to stop the bleeding. In a person without Haemophilia, this is how the process of blood clotting takes place

What Are The Causes of Haemophilia? Who Is At Risk?

Haemophilia is caused due to an X-linked recessive pattern in chromosomes and affects males more than females. When you get cut, your body helps slow down your rate of bleeding or clotting by means of a clotting factor or Factor VIII. In people with Haemophilia, this clotting factor is either absent or not enough. Haemophilia is also an inherited disease, mostly passed on from a mother to her children. The implications of this are that if a woman has a defective factor VIII gene, she is likely to be a carrier, which means her children will be affected as well.

Acquired Haemophilia, on the other hand, is not a genetic condition and can be linked to:

Pregnancy

Autoimmune diseases

Multiple Sclerosis

Cancer

What Are The Different Types Of Haemophilia?

There are essentially three types of Haemophilia – Type A, Type B and Type C:

Type A Haemophilia: It is also known as the Classic Haemophilia, and is the most common type of Haemophilia recorded. It is caused due to the absence of clotting factor VIII in the body.

Type B Haemophilia: It is also known as the Christmas disease because the first reported case was in a patient called Stephen Christmas, way back in 1952. It’s a rare type of recorded Haemophilia and occurs due to the lack of clotting factor IX in the body.

Type C Haemophilia: A very rare condition that affects both men and women equally, and is caused due to the lack of the clotting factor XI in the body.

What Are The Common Signs and Symptoms Of Haemophilia?

If the person doesn’t have a family history of Haemophilia, he/she may not be tested for it. But if the family has a history if Haemophilia, the child may be tested from the umbilical cord blood. Here are some of the symptoms that can show up within the first 18 months of childbirth:

Bleeding in the head at the time of birth

Bruised or swollen joints while learning how to walk

Frequent nose bleeds and bruises at minor injuries

Bleeding gums or in urine and stool

Signs of obesity

Are there different degrees of severity?

Yes, the severity is graded by measuring the baseline level of factor (without treatment) in a patient. This level is fixed for each patient; their family members may have different levels of factor if they too suffer from the disease. Patients are graded according to the level of factor in their blood, lower levels of factor means more severe disease, as the deficiency from normal is much more. Patients with severe Haemophilia that is less than 1% of factor in their blood can bleed spontaneously, without any injury, while mild Haemophilia patients with factor level more than 5% will bleed only after injury or surgery.

Some important sites of bleeding

The Ilio-psoas (a muscle in the hip), is an important site of bleeding. If the patient has a bleed in this site, usually there is pain in the abdomen, because the muscle is deep inside no swelling is seen. The diagnosis is made by the doctor. Other sites of bleeding are the main joints e.g. knee, ankle and elbow joint are commonly affected. If injury any part of the body can be affected. Some patients may have bleeding in the brain, even after a very minor injury. Occasionally patients may have blood in the urine.

How Is Haemophilia Diagnosed?

To diagnose Haemophilia the doctor will ask the patient about history of bleeding and any family history related to bleeding problems. This will reveal whether you or your family members, have bleeding problems. However, some families may have Haemophilia have a family history of the disease. The doctor will perform a physical exam to see the status of the joints. Then special blood tests to diagnose Haemophilia are performed, these blood tests may not be available everywhere. These include a baseline screening tests, which measure the coagulation time of blood called PT, APTT. Then if the APTT is prolonged , as is seen in Haemophilia a more specialized test is performed to see the deficiency of factor VIII (8) or IX(9) and the level of factor present. These test results will reveal if haemophilia is present, what type of haemophilia (A or B), and its severity. Once the doctors have all this information they will be able to advise you on the treatment and precautions.

Treatments for Haemophilia

Haemophilia is a condition for a lifetime. The level of clotting factors VIII and IX generally remain the same throughout the person’s life. Depending on the stage of your Haemophilia, your doctor will recommend a few treatment options to manage this disease like:

Clotting Factors Replacement Therapy, and is given intravenously

Medication is given on a weekly basis to reduce the bleeding episodes

Treatment for joint bleeding

Complications of Replacement Therapy

Though factor replacement therapy is the treatment of haemophilia there may be complications. Earlier the risk was viral infection- like hepatitis B and C or HIV. However with better purification and safety measures this has reduced in plasma derived factor and is not present in recombinant factor. Now all plasma derived factor production is regulated with careful screening of blood donors, better testing of donated blood products. After collection of the plasma it is treated with detergent and heat to destroy viruses.
Bleeding into the joints, if this occurs it may result in damage to the joint, leading to deformity and disability. The more number of times a joint is affected, the more chances of permanent damage. Commonly affected joints are the knee, ankle or elbow joints. Delay in stating treatment also results in poor results. Once damage to a joint occurs, movement becomes decreased due to pain and difficulty in movement, this causes the muscles to become weak and even wasted. This further can lead to injury due to a fall as the muscles are weakened.

Precautions
Avoid injury as much as possible, children should be watched for falls, avoid intramuscular injections. Most children’s vaccines can be given in the skin with a thin needle. Avoid strong massage or rough exercise, particularly in a painful joint. If a joint becomes painful or swollen, immediately contact the doctor. Avoid movement-apply ice, raise the joint and rest. Use medicines as prescribed by the doctor for the length of time recommended by the doctor.

Role of physical therapy

Strong muscles may help to protect the joint, so physical therapy is part of treatment for haemophilia. Avoid physical therapy or a new exercise plan if the joint is painful. An increase in factor may be needed if starting physical therapy after a gap or rest period. All physical therapy must be done under supervision of a trained physical therapist and under guidance of your doctor. If pain or swelling occurs, please go back to your doctor for a check-up. The benefit of physical therapy may not be immediate, it is important for long term mobility.

Although there is no cure for Haemophilia, it can be managed with care and precaution. Haemophiliacs can lead an almost normal life with the right support.

Ayurveda view of Haemophilia

Prolonged consumption of pitta provoking diet and lifestyle vitiate rakta/blood. When the rakta/blood is vitiated, then it becomes an incompatible substance to the body. The body tries to clear it by expelling it in the form of bleeding. Rakta and pitta have a cause-and-effect relationship because of their common origin, and this fact is important in the pathogenesis and manifestation of raktapitta. Obstruction of raktavaha srotasa rooted in liver-spleen and raktapitta hemorrhage.

When normal hemostatic mechanisms fail, major hemorrhage may follow minor trauma or may appear to arise spontaneously. Also, the pathogenesis of blood disorders do not mention why a body would be predisposed to vessel wall problems, platelet dysfunctions, or clot inhibitions. Bleeding from different orifices of the body is not correlated with pathophysiology in Ayurveda. Ayurveda however discusses raktapitta as an endpoint to a series of unbalancing events.