Hemophilia A - Signs, Symptoms, Causes, Diagnosis, and Treatment

What Is Hemophilia A?

Hemophilia A, a subtype of hemophilia, is a rare genetic blood clotting disorder. The blood loses the ability to clot normally in hemophilia A patients. This results in profuse or prolonged bleeding, either in an external wound or internally. In Hemophilia A, there is a deficiency of the factor called factor VIII. This factor is needed to form clots and stop bleeding. This disorder can be mild, moderate, or severe, depending on how less the factor VIII is in the blood. More than 50% of people with hemophilia A have the severe form. In mild cases, no special treatment is needed, and bleeding can be stopped at home. Even patients with severe illness can lead a comparatively normal life with some precautions and the right treatment. As it is a genetic condition, two-thirds of the affected patients have a positive family history, but one-third do not have any family history of this disease.

In patients with severe clotting factor deficiency, profuse bleeding occurs even after a minor injury or sometimes occurs spontaneously without any injury. The patient can bleed into the joints, brain, and other vital organs, resulting in fatal complications. As there is no spontaneous bleeding in patients with milder forms, the condition is only diagnosed after a dental extraction or some serious injury. Specific laboratory tests that check the levels of factor VIII are used to diagnose hemophilia A. Treatment is done by replacing the clotting factor VIII. As this condition is caused by a gene mutation on the X chromosome, it mainly affects males (they only have one X chromosome). In extremely rare and severe cases, the lifespan is affected due to rare complications of other associated conditions.

What Are the Other Types of Hemophilia?

Apart from hemophilia A, the other types of hemophilia include:

1. Hemophilia B - Also called Christmas disease. It is caused by the deficiency of factors IX (9).

2. Hemophilia C - Mildest form of hemophilia. It is caused by the deficiency of factor XI (11). Individuals with this type of hemophilia do not exhibit spontaneous bleeding, and severe bleeding occurs only after extraction or injury.

3. Acquired Hemophilia - In some rare cases, hemophilia develops after birth and is not genetic. Here, the individual’s immune system forms antibodies that attack and destroy factors VIII or IX, resulting in hemophilia.

Hemophilia A is around four times more common than hemophilia B, and more than 50% of patients with hemophilia A have the severe form.

What Are the Signs and Symptoms of Hemophilia A?

As mentioned before, hemophilia A patients will experience symptoms depending on how severe the factor VIII deficiency is.

Mild Hemophilia A - The signs and symptoms include prolonged bleeding only after:

1. Tooth extraction.

2. Any surgical procedure.

3. C-section or vaginal delivery.

4. Trauma or injury.

5. Or while menstruating.

People with mild hemophilia usually get diagnosed only if they face any of the above situations as adults.

Moderate Hemophilia A - Such people exhibit the following signs and symptoms:

1. Severe bleeding after an injury.

2. Spontaneous bleeding (bleeding even without an injury).

3. Easy bruising.

4. Profuse bleeding even after injection and vaccination.

Severe Hemophilia A - Apart from the symptoms seen in both mild and moderate hemophilia A, severe hemophilia A patients also have repeated episodes of spontaneous bleeding into the muscles, joints, and digestive tract, causing permanent damage. Signs of spontaneous bleeding include:

1. Oral symptoms - Frequent bleeding from gingiva or gums and bleeding with routine dental procedures.

2. Anemia symptoms - Lethargy, increased heart rate, and shallow breathing.

3. Joint symptoms - Joint pain, cracking, tingling, stiffness, etc.

4. Digestive tract symptoms - Blood in vomit, blood in stools, and stomach pain.

5. Urinary tract symptoms - Blood in urine and bleeding after circumcision.

Sometimes, bleeding can even occur in the brain, which can result in the following symptoms:

1. Severe and prolonged headache.

2. Lethargy.

3. Neck stiffness.

4. Vomiting.

5. Frequent vomiting.

6. Blurry vision.

7. Clumsiness.

8. Seizures.

9. Drowsiness.

This is a medical emergency, and immediate medical help is necessary to prevent death.

What Causes Hemophilia A?

The clotting factor VIII is present in the X chromosome. The mutation of this is responsible for hemophilia A. X, and Y chromosomes are sex chromosomes. Hemophilia A is an inherited X-linked recessive condition. Females get two X chromosomes, one from the mother and father each (XX), and males get one X chromosome from the mother and a Y chromosome from the father (XY). So, if the son inherits the mutated X chromosome from his mother, he will inherit hemophilia. This also means that fathers do not pass hemophilia to their sons.

As daughters have two X chromosomes, they will most likely inherit a healthy X chromosome from their father even if they inherit the mutated X chromosome from their mother. They usually will not show symptoms of hemophilia, but they do become carriers. Such females can pass the gene to her offspring but do not show signs. This is why hemophilia is rare in females. A female carrier can either have a girl who is not a carrier, a girl who is a carrier, a boy without hemophilia, and a boy with hemophilia.

How is Hemophilia A diagnosed?

The diagnosis of hemophilia A is made through clinical symptoms and laboratory testing. You might have to get the following tests done:

1. CBC - Complete blood count shows the number of different types of cells in the blood and the levels of hemoglobin (lower levels indicates anemia).

2. PT (Prothrombin Time) and aPTT (Activated Partial Thromboplastin Time) - These tests show how long it takes for the blood to clot.

3. Factor VIII and IX Tests - It measures the level of blood clotting factors in the blood. Low or absence of factor VIII shows hemophilia A, while low levels of factor IX indicates hemophilia B.

4. Fibrinogen Test - Shows how well blood clots are formed.

5. Genetic Testing - The mutation in the factor VIII gene can be determined by genetic testing. It helps identify the risk of hemophilia A in a family.

How Is Hemophilia A Treated?

Treatment depends on the severity of hemophilia A, the patient’s age, and various other factors. Hemophilia A patients might need regular or prophylactic treatment to prevent bleeding, or treatment is done at the time of bleeding episodes.

The primary treatment is called replacement therapy. Here the deficient or absent clotting factor is replaced. This therapy works in most patients, but in some, the body rejects it. In such cases, different sources for factor VIII or different amounts might be tried. The factor is introduced in the bloodstream through an IV (intravenously). The other treatment options include:

1. Antifibrinolytics - Drugs, such as Aminocaproic acid and Tranexamic acid, prevent clots from breaking down and stop bleeding.

2. Desmopressin - It is a hormone that stimulates the body to release more clotting factors. This hormone is given through the vein or as a nasal spray.

3. Fibrin Sealants - Fibrin sealants are directly applied to profusely bleeding wounds to promote clotting and healing.

4. Emicizumab - This medicine prevents or reduces the frequency of bleeding episodes.

Apart from these, some home remedies can help prevent severe complications:

1. If a wound bleeds profusely, apply pressure and then wrap a bandage.

2. Use ice packs to treat bleeding under the skin.

3. Avoid taking Warfarin, Heparin, or other blood thinners.

4. Maintaining good oral hygiene will prevent complications that can occur during extractions and other dental procedures.

5. Use Paracetamol for pain, and avoid Aspirin and Ibuprofen.

6. Children with hemophilia should wear knee and elbow pads and helmets during physical activities.

What Are the Possible Complications of Hemophilia A?

The following are the possible complications of hemophilia A:

1. Bleeding in muscles - Bleeding into deeper muscles can result in arms and legs swelling. This swelling can compress nearby nerves and result in numbness and pain.

2. Joint damage - Internal bleeding into the joints can result in permanent damage, resulting in arthritis.

3. Adverse reaction to clotting factor replacement therapy - In some patients, clotting factor replacement can trigger the immune system, which in turn inhibits or destroys these clotting factors.

4. Infection - Because of the need for frequent blood transfusions, people with hemophilia A are at higher risk of infection.

To know more about hemophilia A, consult a hematologist online now.