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Hemophilia

Haemophilia, known as a bleeding disorder, is a rare hereditary condition that occurs because of the deficiency of a blood clotting factor. This is why it takes more time for the blood to clot in haemophiliacs compared to normal individuals. In severe cases, it may cause internal bleeding, which in turn can lead to death (if untreated). Haemophilia occurs in about 1 of every 5,000 male births. In India, the incidence of haemophilia is nearly 1 in 5000 males. This condition is more common in males  compared to females. It has been postulated that in our country around 1300 children are born with haemophilia every year.

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Types

There are many different types of haemophilia, but the two most common types are:

Haemophilia type A

This is also known as classic haemophilia. This disease is caused because of the lack of blood clotting factor VIII.

Haemophilia type B

This is also known as the Christmas disease. It is caused because of lack of or decreased production of clotting factor IX.

Symptoms

Bleeding is a primary symptom of haemophilia. This can occur in the following ways.


  • Bleeding below the skin, which can cause a hematoma (build-up of blood in the soft tissue of the body).

  • Bleeding in the mouth or in the gums, usually after any dental procedure or after a tooth loss.

  • Bleeding after receiving vaccinations or any injections.

  • Bleeding into joints may cause swelling or pain in the affected joints. The commonly affected joints are the elbows, knees and ankles.

  • Bleeding observed in the stools or urine.

  • Frequent nose bleeds that are hard to stop.

  • Bleeding observed from the head of a new-born after a particularly tough delivery.

  • Bleeding in the internal digestive system may result in blood in the stools or the vomit.

  • Bleeding in the brain may result in headaches, drowsiness, vomiting or seizures.

Causes And Risk Factors

Causes

Haemophilia is a blood clotting disorder that can internally as well as externally cause bleeding. This indicates that even a simple fall without any external signs of injury can cause internal bleeding, thereby damaging the internal organs. Some of the health complications caused because of internal bleeding in haemophiliacs are


  • Damage of the muscles of the joints due to excess blood pooling in them

  • Bleeding in the head causing brain damage

  • Damage to other organs in the body (which can ultimately lead to death)


Genetic basis of the disease: The gene responsible for haemophilia is specifically located on the X chromosome. It is a known fact that all males have an XY chromosome while females have an XX chromosome. Therefore, males who have the faulty gene are more likely to suffer from haemophilia, whereas in females, the second X chromosome makes up for the faulty gene and makes them less susceptible and are less likely to have the condition. However, these women who have the faulty gene are known as carriers’.

Risk factors

Although haemophilia is a genetic disorder, it does occur among families with no prior history. About 33 per cent of newly diagnosed babies have no family history of haemophilia. These cases are considered to be due to a change or ‘mutation’ of the gene responsible for the production of clotting factor protein. This change or mutation can prevent the clotting protein from working properly or to be missing altogether. In a very rare condition called ‘female haemophilia’, both the X chromosomes have the faulty gene. In such cases, the woman will suffer from haemophilia.

Prevention

If there is a family history of haemophilia, you can test the infant at birth or can even before birth, in the first three months of pregnancy (with Chorionic villous sampling or amniocentesis). Moreover, haemophiliacs are required to follow few precautionary measures to lead a healthy life. Here are some of them --


  • Avoid having NSAIDs

  • Care for their joints by exercising to reduce the workload on the joints.

  • Do not shun exercise

  • Carry identification at all times

  • Travel with care

  • Vaccinations against hepatitis A and B, which are preventable, should be received.

  • Individuals should promptly and adequately treat any bleeds if they occur.

  • Regular testing for infections, especially blood-borne infections, should be done, at least annually.[1]

Diagnosis

The diagnosis of haemophilia includes screening tests and clotting factor tests.

A screening test is a blood test that shows if the blood is clotting properly. A clotting factor test is also called factor assays; this test is used to examine how long the blood takes to clot. It is used to determine the type of haemophilia and the severity of the disease. Severe haemophilia is diagnosed by one year of age and the diagnosis is confirmed after a panel of coagulation profile is conducted on the patient’s blood. Lab results that indicate haemophilia include --


  • Normal platelet count

  • Normal bleeding time

  • Normal prothrombin time (PT)

  • Normal thrombin time (TT)

  • Prolonged activated thromboplastin time

  • Low level of clotting factors VIII or IX

Treatment

The best approach to treat haemophilia is to replace the missing blood clotting factor such that the blood can properly clot. This is done by injecting commercially prepared clotting factor concentrates into a person’s vein. Lately, many researchers have focused on gene therapy to identify a relevant cure for haemophilia. 

Factor concentrate therapy -- The patients were given factor concentrate therapy. In this, factor concentrates from the plasma were administered. However, with these plasma factor concentrates a number of problems had to be resolved. These plasma factors have to be tested and treated to kill any potential viruses (like HIV and hepatitis) before it is packaged for use. Moreover, fibrinolytics, fibrin sealants can be given.

Fibrin is a fluid-fibre protein involved in the clotting of blood. Because of a lack of factor VIII, the Fibrin becomes fibre without fluid. Now, because of this form of fibrin, when a haemophilia patient bleeds, clotting does not happen. To ensure the blood clots, the patient requires a cryoprecipitate, i.e. fresh frozen blood product prepared from plasma at −80°C. This cryoprecipitate is rich in factor 8 and fibrinogen. The injection of cryoprecipitate is given to the haemophilia patients every 3–6 weeks to restore their clotting capacity.

Recombinant clotting factor -- Because factor concentrate therapy has multiple drawbacks, the mainstay of treatment currently is recombinant clotting factor concentrate. Known as recombinate, this treatment is extremely expensive because each unit of recombinate costs ~ten rupees. A 10 kg child with intracranial bleed requires a dose after every 8 h, and each dose costs 5000 rupees.

Other treatment options that can be administered are listed below:


  • An injection or a nasal spray can help a haemophiliac’s body into the release of an increased amount of the required clotting factor.

  • Medications that help in preventing the formation of clots and assists in their breakdown can be administered.

  • Fibrin sealants are useful, especially in dental procedures, as they enable direct coagulation and healing of the wound site.

  • Physical therapy may be necessary in case of mild bleeding into the joints. If large amounts of bleeding and damage to joints have occurred, surgery may be required. 

  • First aid by compressing the wound area and applying a bandage for small cuts and bruises should be provided. An ice pack can help with minor bleeds under the skin. In case of bleeding in the mouth, ice cubes can help.[3]

  • From a recent advance point of view, gene therapy gene holds hope for a cure by replacing the patient’s defective haemophiliac gene with a functional gene.


Are there any complications in the treatment?

A very small percentage (~10%-15%) of people develop a resistance to the haemophilia antibody, also known as inhibitor. In such cases, the treatment of the conditions becomes extremely difficult as the body does not respond to medication as it normally should. People with inhibitors often experience an increase in joint pains and other complications that arise from this condition, leading to a reduced quality of life.

Haemophilia is not a life-threatening disease and does not affect quality of life. The repeated transfusion of transmitted disease via blood can result in the death of patients suffering from haemophilia. If the plasma is not properly tested and guidelines are not followed, there are chances of losing a patient’s life.

Lifestyle/management

As haemophilia is a life-long disease, there are certain lifestyle modifications that should be implemented.


  • Regular exercise- Exercises such as walking and swimming can help in muscle strengthening and joint protection. Avoid contact sports such as wrestling and football.



  • Avoid selected medications- Aggravation of bleeding can take place with medicines such as aspirin and ibuprofen and prevent the clotting of blood; therefore, they should be avoided.

  • Follow a good dental hygiene ritual- This will avoid cavities and their associated dental procedures, which can cause unwarranted bleeding.

  • Safety for children- Furniture at home should have rounded edges and should be free from clutter. This will help prevent accidental falls and bleeding in children. Elbow pads, helmets, safety belts, and kneepads can help in preventing accidental falls and injuries in children.

  • Medical alert bracelet- Wearing a medical alert bracelet will inform medical personnel that the child has haemophilia and the type of clotting factor required for treatment. This can be lifesaving.

  • Counselling- A therapist or a social worker can help decide how much of what type of activities can be performed by a haemophiliac child to ensure that they do not feel socially isolated.

  • Intimation regarding haemophilia status- Whoever takes care of the child, including babysitters, friends, relatives, and teachers, should be intimated regarding his/her haemophiliac status.

Prognosis And Complications

Prognosis

The type of haemophilia and the severity of it are factors that determine the prognosis of haemophilia. Because of the use of clotting factors, haemophiliacs can live a near-normal and practical life.

Complications

Internal Bleeding- This bleeding can compress nerves leading to a numb feeling or pain.

Joint damage- If bleeding is severe, the excess internal blood may cause extra pressure on the joints causing arthritis or joint destruction.

Infection- There is a risk of infection because of repeated blood transfusions and contaminated blood products.

Adverse reactions to treatment with clotting factors- In some cases, the immune system may produce inhibitors that inactivate the clotting factor’s function, which makes the clotting factor treatment ineffective.

Alternative Treatments

Alternative therapies help in reduce stress, perception of pain, improve sleep, and improve overall well-being. Before initiating any alternative medicines, it is best to inform the treating physician. This is because certain alternative medication may interfere with the clotting treatment or have any other drug interactions. Some of these therapies are mentioned below.


  • Meditation and Tai chi- This helps relax the mind and cope with the pain because of bleeding in the joints.

  • Yoga- Yoga, which comprises stretching, muscle strengthening and balance improvement, has been found to be beneficial in patients with arthritis. However, caution must be exercised to perform these exercises as per the restrictions imposed by the target joints.

  • Massage therapy- The massages given should be superficial to not cause too much pressure on the muscles, which may result in bleeding. Massages help in pain reduction, relaxation, relief of stress and a decrease in muscle spasms. Lavender oils and Capsaicin cream, which is sourced from chilli peppers, help in pain relief. These can be used for massaging.

  • Acupuncture and Acupressure- Both acupuncture and acupressure have been reported to reduce muscle spasms and chronic pain. However, acupuncture should be only used after the first dose of replacement treatment. Acupressure may be favoured over acupuncture for haemophiliac patients.

References


  1. Haemophilia. Centers for Disease Control and Prevention. Available at: https://www.cdc.gov/ncbddd/hemophilia/facts.html. (https://www.cdc.gov/ncbddd/hemophilia/facts.html)

  2. Haemophilia. Kids Health. Available at:  https://kidshealth.org/en/parents/hemophilia.html. (https://kidshealth.org/en/parents/hemophilia.html)

  3. Haemophilia. NCH Health Care. Available at: https://www.nchmd.org/education/mayo-health-library/details/CON-20373306 (https://www.nchmd.org/education/mayo-health-library/details/CON-20373306)

  4. Haemophilia. Harvard Health Publishing. Available at: https://www.health.harvard.edu/a_to_z/haemophilia-a-to-z.  (https://www.nchmd.org/education/mayo-health-library/details/CON-20373306)

  5. Lifting the Covers on Alternative Pain Remedies. HEMAWARE. Available at: https://hemaware.org/mind-body/lifting-covers-alternative-pain-remedies. (https://www.nchmd.org/education/mayo-health-library/details/CON-20373306)

  6. Nathwani AC, et al. Hematol Oncol Clin North Am. 2017;31(5):853-868.

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