Hemophilia: Symptoms, Causes, Treatment, Procedure, Cost, Diet and Side Effects

Haemophilia is a rare bleeding disorder in humans where the blood does not clot normally. It is usually a hereditary disorder. Generally the X chromosome is a carrier of this disorder. People born with haemophilia have very little amount of clotting factor, which is a protein that helps the blood platelets stick together whenever there is an external injury in the body. This disorder is of 2 types – A and B. While haemophilia A means having lower levels of clotting factor VIII, haemophilia B means having lower levels of clotting factor IX. Haemophilia can be mild, moderate or extreme, depending on the missing amount of clotting factor in their body. This is a disease generally occurring in males – about 1 in 5000 males are born with this disorder each year.

Symptoms of haemophilia are excessive bleeding, which can occur in the mouth from a cut or bite, or due to losing of a tooth. Severe nose bleeding for no obvious reason, heavy bleeding from a minor cut that resumes after the blood has already clotted are some of the symptoms of haemophilia. Bleeding can occur in the joints, from urine and during defecating. Internal bleeding due to haemophilia can cause bleeding in the brain, which is a severe form of this disorder. Bleeding in the brain results in long lasting and painful headaches, repeated vomiting, sleepiness, weakness or clumsiness, double vision, convulsion or seizures.

Patients of haemophilia are asked about their family history to know whether any member in the family had previously suffered from the same disorder. Certain medical tests are carried out after that, to know how long it takes to clot the blood, whether the blood has low amount of clotting factor and whether any clotting factor are missing from the blood. The test results show the level and type of haemophilia a person has.

The most common treatment for haemophilia is the replacement therapy, where concentrates of the missing clotting factors are dripped into the blood. But it is to be noted that mild haemophilia does not require this treatment. Only severe and moderate cases of haemophilia are treated with this method.

Hemophilia is a rare genetic disorder involving the disturbed mechanism of blood clotting. It is related to the deficiency of certain clotting factors, depending on which different symptoms are experienced. Important symptoms are:

• Unexplained bleeding after any surgical or dental procedure
• Bleeding post-vaccinations
• Unusual bruising of the skin
• Presence of blood in the urine or stool
• Irritability in infants
• Spontaneous nose bleeding

Summary: Hemophilia symptoms vary on the basis of deficiency of the clotting factors. In the case of mild deficiencies, abnormal bleeding occurs only after surgery or dental procedures while in severe cases, spontaneous bleeding occurs.

Hemophilia is an uncommon genetic abnormality. It is mainly caused due to deficiency or decreased levels of certain clotting factors. The condition may be congenital or acquired depending on which there are several causing factors of the disease.

Important Hemophilia causes may include:

• Genetic inheritance
• Pregnancy
• Certain autoimmune conditions
• Cancer
• Multiple sclerosis
• Drug reaction mechanisms

Summary: Hemophilia is caused due to deficiency or decreased levels of clotting factors in the blood. The condition may be genetic or congenital while in a few cases, it may be acquired.

Early diagnosis of hemophilia is important as based upon it a proper treatment strategy is decided. Steps involved in the diagnosis mainly include:

• Physical examination: This includes a detailed physical examination of the patient to check for any signs or symptoms of hemophilia.
• Family history: The patient will be asked about any family history related to bleeding abnormalities. If there is any such kind of history, the individual will be asked to get tested for hemophilia.
• Screening tests: These include blood tests which are done to check for the clotting of blood.
• Clotting factor tests: These involve factor assays that confirm the presence of bleeding disorders.

Summary: Early and timely diagnosis of hemophilia is important under the supervision of a specialist. This should be done by proper physical examination and diagnostic tests.

Hemophilia is a genetic disorder, hence its prevention is not possible. However, there are certain measures one can adopt to prevent the worsening of the symptoms and manage the condition. Important preventive measures may include:

• Regular physical activities and exercises: Mild aerobic exercises such as swimming, walking, and cycling are preferred to build muscles along with protecting the joints.
• Avoiding medications for blood thinning: Blood thinning medications should be avoided as they make the symptoms even worse.
• Maintaining good oral hygiene: Gum or oral diseases should be avoided by maintaining good oral hygiene.
• Avoiding severe injuries: Severe injuries or accidents must be avoided to prevent conditions of bleeding.

Summary: Prevention of hemophilia is not possible as it is a genetic disorder. However, we can avoid worsening the symptoms by following certain preventive measures.

The treatment of haemophilia, as mentioned above, is done by external injection of the clotting factor which is missing or present, but in very low amounts. The clotting factor which is dripped into the blood can be made out of human blood. The blood is treated to control the spreading of other diseases like hepatitis. However, with the latest technologies of screening and preserving donated blood, this risk of having other diseases due to blood transfusion is negligible these days.

There are risks in using human blood. So some people prefer to take clotting factors that are not made from human blood. These are known as recombinant clotting factors. These clotting factors are easy to store and use at home and takes only about 15 minutes to use it.

Replacement therapy is used regularly to prevent bleeding. This is also known as preventive or prophylactic therapy. Another type of replacement therapy is called on-demand therapy, where the treatment is only done when it is required, i.e. only when there is severe bleeding, both internal and external.

Many people learn to use the therapy at home. Treatment at home is basically preferred more than treatment at a hospital. This is because people or children get quicker treatment, and people do not have to visit doctors frequently. Moreover, home treatment costs less and children tend to take responsibility of their own health more at home.

This disease that involves low amount of clotting proteins in humans can be present in any person. Since a human is born with this disorder, even a small child can face it. Therefore it is clear that there are no age barriers for this treatment. Any person, irrespective of their age is eligible to take the treatment for haemophilia.

Certain people do not have this disorder when they are born. These people acquire this disorder as they grow older and such people can start their treatment only after they get the disease. Otherwise, people who do not suffer from haemophilia are not eligible to take this treatment.

Replacement therapy can have various side effects that can make this treatment totally unsuccessful. Various infections can occur due to replacement with donated blood. Most common among these infections are Hepatitis A and Hepatitis B. Antibodies can attack the clotting factor, thus destroy them. Antibodies are the worst type of problem creators in this matter. They would not even allow the clotting factor to function after entering the blood of the affected person, thus rendering the most effective form of treating haemophilia, a complete failure. Delays of this treatment can damage the internal organs like joints and muscles. The affected joint can be totally impaired. Swelling, pain and redness can occur in the joints that are affected. If pressure is given to that joint again and again, the joint can be permanently destroyed.

It is said that if a person suffering from haemophilia gets proper treatment, then he/she is expected to get a normal life. But the affected person should follow certain rules throughout his or her life in order to lead a healthy life. Extreme dental care should be taken along with regular check-ups and vaccinations in order to stay free of infectious diseases.

A child treated with replacement therapy can suffer from emotional strains after the treatment is done. In such cases, the child is asked to visit Haemophilia Treatment Centres or HTCs where they can get mental and emotional support, which in turn would help them to deal with the problem efficiently. The children should be made aware of the disorder they are having, which would make them understand about the disorder, and make them realise that this is not their fault. Small kids suffering from haemophilia should be kept away from sharp objects, and should be provided all kinds of safety measures so that they don’t get injuries. Whenever they go out for playing, people at home should provide them with knee pads, helmets and elbow pads.

Physical activities are not totally discouraged for people with such a disorder. But people with severe haemophilia are not allowed to be athletes. Football, hockey and wrestling are to be completely avoided.

Certain medicines like Aspirin and others that contain salicylates are to be avoided by people suffering from haemophilia.

Haemophilia is mostly a genetic disease. People are born with this disorder. Therefore, this disorder is never completely cured. People have to stay under treatment throughout life. Replacement therapy has the capability of increasing the amount of clotting factor in the blood of the affected person, but can never provide the absolute amount of clotting factors that a normal healthy person has. So this treatment has to continue throughout life. Only then the affected person can lead a healthy and normal life.

The cost of replacement therapy varies from Rs. 1,95,000 to Rs. 5,52,500 in India according to the level of severity of the disorder in the patient.

Diet cannot treat hemophilia directly but it may help to maintain a healthy weight. Important food items to be preferred in such conditions may include:

• Green and leafy vegetables such as broccoli, sweet potatoes, etc.
• Fresh fruits.
• Sources of lean protein such as fish, poultry, turkey, eggs, tofu, beans, etc.
• Whole grains in place of refined grains.
• Beverages like low-fat milk or water.

Summary: Although dietary changes cannot treat the condition, it is important to maintain the good health and weight of the individual.

Cases of genetic bleeding disorders like hemophilia undergo routine treatment and management at home only if diagnosed early. However, in certain circumstances, hemophilia may be presented as an emergency medical condition.

Symptoms accompanying such conditions may include consistent bruising with non-accidental injuries. Continuous and severe bleeding with unexplained causes is also one of the symptoms that indicate urgent medical care and attention.

Summary: Hemophilia is presented as an emergency medical condition when it remains undiagnosed for a long time. Affected individuals face serious symptoms like uncontrolled bleeding or bruising with no signs of trauma.

Previously, physical exercises used to be avoided in hemophilia-like conditions so as to avoid risks of injuries or bleeding. However, there are certain health risks such as obesity and loss of bone density which are considered more harmful than exercise.

Some of the exercises to be preferred in such conditions mainly include:

• Mild aerobics - These include swimming, mild jogging, walking, cycling, etc.
• Interesting physical activities like dancing and fishing Playing activities such as bowling, golf, badminton, table tennis, etc.
• Yoga and meditation

Summary: Physical activities and exercises are beneficial even in bleeding disorders like hemophilia. But these should only be preferred to be done under the supervision of medical experts.

Other alternative methods of treating haemophilia include treatment by Desmopressin, Antifibrinolytic medicines, and treatment of a specific bleeding site. Desmopressin is a man-made hormone that stimulates the release of clotting factor VIII as well as increases the level of these proteins in the blood. Antifibrinolytic medicines are taken in the form of pills that help the blood to clot, especially during gum bleeding. Certain pain killers, steroids and physical therapy may be used to clot the blood, especially when there is bleeding in the joints.

Hemophilia results from a deficiency or decreased levels of certain clotting factors. Hence, the treatment mainly involves replacement therapy which means replacing the clotting factors. Some of the important therapies to treat the condition mainly include:

• Replacing the clotting factors: These are made from donated blood or can be prepared artificially in the laboratory as recombinant clotting factors.
• Desmopressin: This hormone is injected intravenously and stimulates the release of clotting factors in the blood.
• Clot-preserving medications: These are known as ant-fibrinolytics and help to prevent the breakage of clots.
• Fibrin sealants: These are applied topically on the site of wounds to promote clotting.
• Physical therapy: It helps to prevent conditions when internal bleeding damages joints in the body.

Summary: Hemophilia is incurable but can be treated with the application of specific therapies. These therapies work on the mechanism of replacing the clotting factors or stimulating the clotting process.