Hemophilia: Symptoms and Treatment Options

Hemophilia: Symptoms and Treatment Options

Hemophilia is a blood disorder that keeps your blood from clotting normally. People who are hemophiliacs have low levels of clotting factors in their bodies. Without proper treatment, even minor injuries can be serious issues for people with hemophilia. 

Bleeding into muscles and joints, as well as into internal organs, cause the most complications for hemophiliacs. Thankfully, with the advancement of healthcare and medical technologies, there are better treatments for hemophilia today than several decades ago.

Below, we’ll discuss hemophilia symptoms and the treatment options available.

What Is Hemophilia?

Hemophilia is a bleeding disorder that can affect both men and women. People with hemophilia have a deficiency of coagulation factors, including proteins in the blood that help it clot.

Hemophiliacs have excessive bleeding after an injury or surgery, but may also bleed internally without an apparent cause. In children, bleeding into joints results in swollen knees and elbows (hemarthrosis). Bleeding into muscles results in pain, swelling, and stiffness.

If bleeding occurs inside the skull or brain, it can cause serious complications such as seizures and brain damage.

The Two Most Common Types of Hemophilia Are:

●      Hemophilia A

Also known as classic hemophilia, this is the most common type and occurs when you don’t have enough factor VIII. It accounts for about 80% of all cases of hemophilia. Hemophilia A affects 1 out of every 5,000 male births worldwide. People with hemophilia A usually have mild to moderate symptoms.

●      Hemophilia B or Christmas Disease

This is less common than hemophilia A and happens when you don’t have enough factor IX. It accounts for about 20% of all cases of hemophilia and occurs in 1 out of every 25,000 male births worldwide. People with hemophilia B experience heavy bleeding in childhood but have fewer episodes after puberty.

What Causes Hemophilia?

Hemophilia can affect both males and females. The condition is either inherited or occurs randomly, meaning it can affect anyone regardless of gender or racial background.

●      Inherited

Hemophilia A and B are inherited conditions passed down from families. The genes for these conditions are sex-linked recessive, which means that males who inherit the defective gene from their mother will develop the disorder. Females can be carriers without having symptoms themselves.

●      Acquired

In rare cases, hemophilia can develop after an injury or surgery because of bleeding problems that start later in life when the body mistakenly produces antibodies against its own clotting factors.

What Are the Symptoms of Hemophilia?

Symptoms of hemophilia range from mild to severe, depending on which type of hemophilia you have and how much clotting factors you lack. Most people with hemophilia have mild symptoms.

In some cases, the condition is mild enough that it doesn’t interfere with daily activities or cause any symptoms. They may bleed for longer than most people after an injury, surgery, or dental work, and bruise more easily than normal.

People with severe hemophilia can bleed into their muscles or joints, which can cause pain and swelling. They may also experience repeated bleeding episodes throughout life.

Other severe manifestations, such as bleeding into the brain, can lead to brain damage and long-term disability. In some cases, people with hemophilia may bleed spontaneously into their joints or muscles without injury or trauma.

How Is Hemophilia Diagnosed?

It’s crucial to receive a timely diagnosis in order to get appropriate treatment and avoid complications. Diagnosing hemophilia requires clotting factor and screening tests to see if there’s an inherited clotting factor deficiency and blood tests to rule out other causes of bleeding problems.

Severity         Levels of Factor VIII (8) or IX (9) in the Blood
Normal (person who does not have hemophilia)50% to 100%
Mild hemophiliaGreater than 5% but less than 50%
Moderate hemophilia1% to 5%
Severe hemophilia     Less than 1%

What Complications Can Develop from Hemophilia?

●      Bruises

Hemophilia patients are more prone to bruising because their blood doesn’t clot properly. Bruising is often more severe when the skin is hit hard or injured by a blow. This can happen when playing sports or during surgery.

●      Bleeding into the Joints (Arthritis)

Bleeding in an arthritic joint can cause pain and swelling that gets worse over time. The joint may become stiff and lose movement. A doctor will likely recommend treatment with blood clotting factors and physical therapy for these types of injuries.

●      Bleeding into Muscles (Myopathy)

Bleeding into muscles can cause severe pain, weakness, and fatigue. If the bleeding occurs in a major muscle group, such as the thigh or calf muscle, it may cause you to limp while walking or run slowly during exercise.

●      Bleeding into the Brain (Cerebral Hemorrhage)

Hemophilia patients have an increased risk of developing cerebral hemorrhages compared with people without the condition. A cerebral hemorrhage is a type of stroke caused by bleeding into the brain tissue or around it (intracerebral hemorrhage).

Common symptoms include, but are not limited to, headache, nausea, vomiting, and confusion.

How Is Hemophilia Treated?

The outcome for people with hemophilia varies. With appropriate treatment, most hemophiliacs can expect to lead a relatively normal life. The goal of hemophilia treatments is to restore normal function to the blood clotting system.

1.     Clotting Factor Replacement

When someone with hemophilia has an injury that causes bleeding, they need to receive infusions of this protein to help stop the bleeding. The most common way to get this protein into your body is through an intravenous infusion (IV), depending on how often the body needs it.

The two common types of clotting factor concentrates are:

●      Plasma-Derived Factor Concentrates

When you get a plasma-derived factor concentrate injection, your body recognizes the protein in the medicine as similar to its own naturally produced protein that helps stop bleeding when you are cut or injured. The body then makes more of its own natural clotting factors to stop bleeding quickly and prevent excessive bleeding from occurring again.

●      Recombinant Factor Concentrates

These are synthetic versions of naturally occurring clotting factors used when there’s a shortage of these proteins. Recombinant factor VIII therapy is made by genetically engineering human cells to make large amounts of factor VIII. The recombinant factor is then purified from these cells before it’s injected into the patient.

2.     ACE 910 or Emicizumab

ACE 910 or emicizumab works by mimicking the functions of factor VIII (8), instead of direct factor replacement. ACE 910 is a monoclonal antibody that binds to and bridges factors IXa and X resulting in activated factor X that can assume the cofactor activities of factor VIII.

Emicizumab has also been shown to be effective despite the presence of factor VIII antibodies, also known as inhibitors.

3.     Desmopressin Acetate (DDAVP)

(DDAVP) is a synthetic hormone that increases the level of clotting factors in the body. It is a manufactured version of vasopressin, a natural hormone that lowers blood pressure and promotes water retention. DDAVP may be used in combination with factor VIII replacement therapy if you have mild to moderate hemophilia A.

4.     Clot-Preserving Medications (e.g., Epsilon Aminocaproic Acid)

Aminocaproic acid (Amicar) is a drug that helps stop bleeding in people with hemophilia A or B.

It works as an antifibrinolytic agent, stopping the breakdown of blood clots. These drugs help prevent blood clots from getting bigger or causing more bleeding. They can be used along with factor replacement therapy to treat severe bleeding episodes in hemophilia A or B patients who have developed antibodies against factor VIII concentrate.

5.     Fibrin Sealants

Fibrin sealants are used to stop bleeding from minor cuts, abrasions, and puncture wounds. A fibrin sealant is a protein that hardens into a gel-like substance when it comes in contact with blood. When this gel-like substance is applied to bleeding sites, it acts like a clotting agent and helps to stop the bleeding.

6.     Cryoprecipitate

Cryoprecipitate is prepared from the fresh frozen plasma of healthy donors. This method was standard in the past to treat hemophilia. Cryoprecipitate is made by freezing blood plasma and then thawing it. Today, cryoprecipitate is rarely used because of its limited effectiveness and risk of infection.

What’s the Verdict?

The prognosis for people with hemophilia is good. Hemophilia can be treated with early diagnosis and proper care, allowing those who have it to live normal lives without constantly worrying about bleeding or bruising unnecessarily.

You can get treatment for hemophilia, but you should note that it’s an incurable disease. However, with the right medical care, support, and lifestyle changes, you can lead a normal life just like everybody else.

If left untreated, hemophilia can cause a host of health problems for people. If you have been diagnosed with this disorder, you must seek treatment so your quality of life does not suffer. Getting early diagnosis and treatment is the best way to ease symptoms and prevent more serious health complications from developing.

Author Bio:

Aaron Smith is an LA-based content strategist and consultant in support of STEM firms and medical practices. He covers industry developments and helps companies connect with clients. In his free time, Aaron enjoys swimming, swing dancing, and sci-fi novels.