About Hemophilia Type A (Factor VIII Deficiency)

Overview

Hemophilia Type A, also known as classic hemophilia, is a bleeding disorder characterized by a deficiency of clotting factor VIII. This condition usually is inherited (present at birth) and occurs due to a mutation in the F8 gene, which is responsible for producing clotting factor VIII. Less commonly, Hemophilia A may develop later in life as an autoimmune disease where the body makes antibodies that attack the clotting factor.

The severity of symptoms can vary, with mild cases resulting in occasional nosebleeds or bleeding gums, while severe cases can lead to internal bleeding in organs, deep muscle tissue, or joints. Hemophilia Type A primarily affects males, with about 1 in 5,000 newborn males being affected. Diagnosis involves reviewing symptoms, medical history, and conducting lab tests to assess clotting factor VIII levels. Treatment typically involves replacing the deficient clotting factor through infusions or bypassing the missing clotting factor through other medications. Mild or moderate cases may receive treatment as needed (“episodic treatment”), while severe cases may require regular infusions to prevent bleeding and complications (“prophylactic” or “preventive” treatment).

Causes and Risk Factors

Hemophilia A is caused by the lack of enough Factor VIII clotting factor to form clots to stop bleeding.

With inherited Hemophilia A, this is due to a genetic mutation in the gene that controls production of Factor VIII.
Acquired Hemophilia A is caused by a genetic mutation that triggers production of an antibody that attacks Factor VIII, preventing it from helping to form clots in response to bleeding.

The main risk factor for Hemophilia A is family history of the condition:

Genetic inheritance: Hemophilia A is an X-linked recessive disorder. This means the gene mutation that causes Hemophilia A is only on the X-chromosome. Recessive means that for people with two X-chromosomes, both X-chromosomes must have the gene defect.
Gender: Males are more likely to be affected by Hemophilia A since they have one X chromosome and one Y chromosome. For females to have inherited Hemophilia A, both X chromosomes must have the gene defect.

For the rare cases of acquired Hemophilia A, risk factors may include having automimmune conditions such as rheumatoid arthritis and inflammatory bowel disease, certain infections such as hepatitis, and rare reactions to medications such as penicillin and interferon.

It's essential to consult with a healthcare professional for personalized advice regarding risk factors for Hemophilia A and advice regarding testing and diagnosis.

Symptoms

The most common symptoms of Hemophilia A include:

Frequent or hard-to-stop nosebleeds.
Easy bruising.
Longer-than-normal bleeding after cuts, injury, procedures, surgery, and dental work
- Bleeding of the mouth and gums, and difficulty stopping bleeding after losing a tooth.
- Bleeding after circumcision (surgery performed on male babies).
- Bleeding after vaccinations or other injections.
Bleeding into the joints, which can cause swelling and pain or tightness in the knees, elbows, and ankles.
Bleeding into the skin or muscle, resulting in bruising or hematoma buildup.
Blood in the urine or stool.

It's important to note that the severity of symptoms can vary depending on the individual and their specific case of Hemophilia Type A. If you experience any of these symptoms or have concerns about your health, it's best to consult with a healthcare professional for an accurate diagnosis and appropriate management.

Diagnosis

To diagnose Hemophilia A, the following examinations, tests, and procedures are commonly performed:

Review of symptoms and personal medical history: The doctor will ask about any bleeding problems and gather information about family and personal medical history.
Physical examination: The doctor will perform a physical exam to look for signs of bleeding, such as pain and swelling in muscles, joints, and other parts of the body.
Blood tests: These tests provide information about clotting factors, clotting time, and the type of hemophilia. Common blood tests include complete blood count (CBC), partial thromboplastin time (APTT) test, prothrombin time (PT) test, fibrinogen test, and clotting factor tests.
Additional tests or procedures may be recommended based on initial findings and the individual situation. For example, imaging studies such as X-ray or MRI may help assess any joint damage or internal bleeding.

Other examinations, tests, and procedures may be recommended based on individual factors.

Treatment Options

The goals of treatment for Hemophilia A are to prevent bleeding episodes and manage any complications that may arise. Treatment may include:

Prophylaxis to prevent or reduce the number of bleeding episodes or episodic. This involves using medication on a regular basis.
Episodic treatment to manage bleeding episodes. This involves using medication or other treatments when bleeding occurs.

Here are the different types of treatments and how they work to achieve these goals:

Medication types: These may be given in a clinic, Hemophilia Treatment Center, or hospital. Some may be given at home with home nursing or after special training of the family regarding how to administer the medication.

Factor VIII replacement therapy: Human plasma-derived and recombinant (synthetic; manufactured) clotting factor VIII: These clotting factors are infused to replace the missing or deficient factor VIII in the blood, helping to promote clot formation and prevent bleeding.
Non-factor replacement therapies: These newer therapies use monoclonal antibodies (synthetic proteins) to replicate the effect of the missing clotting factor. They are injected into the skin and can be an alternative treatment option.
Desmopressin acetate: This medication is similar to a natural hormone in the body that causes Factor VIII to release from where it is stored in the body. It is used for people who have mild Hemophilia A and are able to make some Factor VIII.
Anti-fibrinolytics: These medications help prevent clots from breaking down, which can help control bleeding. Aminocaproic acid is an example of an anti-fibrinolytic drug. It may be prescribed prior to dental or other procedures to help prevent bleeding after the procedure.
Gene therapy: Gene therapies are one of the newest treatments for hemophilia. Gene therapy involves infusing a medication with the gene needed to produce clotting factor.
Pain medications: Some people with hemophilia complications, such complications that affect the joints, may need pain medications. It is important to discuss pain medication options with the healthcare provider. Some pain medications, such as aspirin and non-steroidal anti-inflammatory drugs (NSAIDs) may increase the risk of bleeding.

Therapies:

Physical therapy: In more severe cases where joints have been damaged, physical therapy can help with rehabilitation and improve joint function.
Fibrin sealants: These are medicines applied directly to cuts and wounds to help clotting.
First aid: Pressure bandages and ice packs are recommended to manage minor cuts and small areas of bleeding. Physical therapy: In more severe cases where hemophilia has damaged joints, physical therapy may be recommended for rehabilitation. This can help improve joint function and manage pain.

Lifestyle and Self-care:

In addition to medication and therapeutic procedures, there are certain lifestyle and self-care changes that can help manage Hemophilia A:

Avoid medications that may increase risk of bleeding: This includes blood thinning medications, aspirin, and non-steroidal anti-inflammatory drugs (NSAIDs). Consult a healthcare professional before starting new medications.
Avoid activities that may cause injury or bleeding: Individuals with hemophilias should avoid activities that have a high risk of injury or bleeding, such as contact sports or activities that involve sharp objects.
Regular check-ups: Regular check-ups with healthcare providers are important for monitoring the condition and adjusting treatment as needed.
Dental care: Dental procedures should be performed with caution, and specific measures may be taken to ensure minimal bleeding during dental treatments.
Get vaccinations: The Centers for Disease Control and Prevention (CDC) recommends that people with hemophilia receive recommended vaccines. Be sure the healthcare professional administering the vaccine is aware you have hemophilia and uses the smallest gauge needle possible. Apply pressure or ice for 3-5 minutes after injection to reduce risk of bleeding.

Overall, the goal of treatment for Hemophilia A is to prevent and manage bleeding episodes and complications. Treatment plans will vary depending on individual factors and should be discussed with a healthcare provider who specializes in hemophilia diagnosis and treatment.

Medication dosing may be affected by many factors. Check with your health care professional about dosing for your individual situation. Side effects can occur. Check with your health care professional or read the information provided with your medication for side effect information