If your blood doesn’t clot properly, you may be diagnosed with a bleeding disorder. While most people have heard of hemophilia, other clotting disorders are less well known. One of them is immune thrombocytopenia (ITP), which has some features in common with hemophilia. In fact, some people are misdiagnosed with one when they actually have the other.

“When I was born, I was diagnosed with hemophilia,” one MyHemophiliaTeam member wrote. “But it wasn’t true, I guess, and later on I was diagnosed with immune thrombocytopenia.”

A few case report studies suggest that it’s possible, but very rare, for a person to have both hemophilia and ITP at the same time. While hemophilia and ITP share some factors in common, they also have some key differences.

In this article, we’ll explore the similarities and differences between hemophilia and ITP. Understanding their causes, symptoms, and treatment can help you better understand these distinct clotting disorders.

How Does Blood Clot?

Because hemophilia and ITP both impair blood clotting, it’s helpful to understand how blood clots.

When a blood vessel ruptures — perhaps due to a cut or other injury — blood begins to leak from the site. Bleeding may be visible through an open wound on your skin, or it may happen internally where you can’t see it right away.

Normally, a person’s natural blood-clotting processes will kick in to stop the bleeding. Blood clotting, also called coagulation, involves blood cell fragments called platelets (or thrombocytes) clustering together at the damaged blood vessel to plug the hole. This stops the bleeding. Some experts refer to platelets as a natural bandage for your body.

From there, small molecules called clotting factors are activated to form strands of fibrin that make a seal inside the wound. Fibrin is a strong, flexible protein your body produces. In the human body, there are various clotting factors (also known as coagulation factors). Each has been named with a Roman numeral, such as clotting factor I, II, V, XII, and so on.

With time, the wound in the blood vessel heals, and within a few days, the blood clot dissolves. Overall, the platelets seal a wound by forming a temporary, loose “platelet plug.” Coagulation factors strengthen and stabilize that clot.

Hemophilia vs. ITP: An Overview

Hemophilia and ITP both interfere with the body’s blood-clotting process but in different ways.

What Is Hemophilia?

Hemophilia is a genetic bleeding disorder, meaning it’s caused fully or partially by a gene mutation. A person with hemophilia either lacks certain blood factor proteins involved in clotting or their blood factor proteins may have abnormalities. Without the proper amount of healthy clotting factors, the body can’t repair injured blood vessels to stop bleeding.

There are several types of hemophilia. Hemophilia A (known as classic hemophilia) and hemophilia B (also called Christmas disease) are the two most common. The main difference between hemophilia A vs. B is that hemophilia A affects clotting factor VIII and hemophilia B affects clotting factor IX.

Usually, hemophilia is passed down from a parent at birth. According to Mayo Clinic, in most cases, the hemophilia gene is passed via the X chromosome from mother to son. About 20 percent of cases of hemophilia are acquired hemophilia, meaning it wasn’t passed down through genes but developed later in life.

Hemophilia affects people of all racial and ethnic groups equally. It’s much more common in males than females: Hemophilia A is diagnosed in as many as 1 in 5,000 male births worldwide. Hemophilia A is approximately four times as common as hemophilia B.

What Is ITP?

Whereas hemophilia is a genetic bleeding disorder, ITP is an autoimmune condition that affects the number of platelets you have, also known as platelet count.

Immune thrombocytopenia was formerly referred to as idiopathic thrombocytopenic purpura. As an autoimmune condition, the person’s immune system creates antibodies (proteins) that seek out platelets and tag them for destruction. This process results in a low platelet count, which means the body can’t properly plug holes in damaged blood vessels.

Researchers aren’t sure what causes ITP. Like other autoimmune disorders, ITP can run in families, but researchers aren’t sure how often that happens. A person is at a higher risk of developing ITP if a parent or sibling has it.

Infections such as HIV or hepatitis can cause ITP in adults. Children most often develop the condition after catching a virus, such as the mumps or the flu.

Like hemophilia, ITP affects people of all races and ethnicities and of any age. However, it’s most common among males and females over 60. Around 9.5 people out of 100,000 in the U.S. have ITP, and researchers estimate about 200,000 people worldwide have the condition.

Symptoms of Hemophilia vs. ITP

As bleeding disorders that affect clotting, hemophilia and ITP share several signs and symptoms. These include:

• Unexplained or excessive bleeding — This may include spontaneous nosebleeds or bloody gums during a simple dental procedure.
• Easy bruising
• Heavy menstrual periods
• Hard-to-stop bleeding
• Blood in the urine or stool
• Bleeding into the joints and muscles
• Bleeding in the brain — This is a very rare but potentially life-threatening sign of both conditions, which may cause persistent headaches, double vision, or extreme sleepiness.

While you may already be familiar with bleeding symptoms in hemophilia and ITP, it’s a good idea to keep your eye out for other symptoms that may affect you.

Bruising

Bruising is a common symptom in both hemophilia and ITP, but the bruises tend to have different characteristics. Petechiae, which resembles tiny reddish-purple spots or a rash, is more common in ITP and usually doesn’t occur in hemophilia.

People with hemophilia are more likely to develop several deep, large bruises following minor injuries. This may mean you’re bleeding under your skin.

In ITP, bruising can appear at the joints of knees and elbows, caused by “leaked blood.” A bruise forms when small blood vessels beneath the skin break, allowing blood to escape and pool under the skin’s surface. The pooled blood appears as a purple or reddish mark on light skin. If you have a darker skin tone, you may notice purple, dark brown, or black bruising.

Joint Issues

In moderate and severe hemophilia, internal bleeding can also affect the joints, often affecting the shoulders, hips, and knees. This is not common among people with ITP.

Joint bleeds can lead to bruising, pain, aching, or swelling in the affected areas, and they may also feel warm to the touch. People with hemophilia should take steps to protect their joints to reduce serious complications from this symptom.

Diagnosing Hemophilia and ITP

Hemophilia and ITP share similar symptoms with one another — and with other bleeding disorders, such as von Willebrand disease. Therefore, a health care provider may need to conduct a few tests to figure out what’s causing a person’s symptoms.

In diagnosing both conditions, a doctor will review your medical history and ask about symptoms and family history of bleeding disorders. During a physical exam, they’ll check for symptoms like pain, bleeding on or beneath the skin, and swelling associated with joint bleeds.

A complete blood count (CBC) can help determine whether clotting problems are caused by low levels of platelets. This may be a telltale sign of ITP that isn’t present in people with hemophilia.

There is no one test that can diagnose ITP, so your doctor will perform many tests to rule out other causes of a low platelet count. These tests include checking for infections like hepatitis, testing for other autoimmune disorders, and checking for nutritional deficiencies like vitamin B12, iron, and folate. In some cases, your doctor may even order a bone marrow biopsy.

Tests for hemophilia could include a clotting factor assay, which shows how much of each clotting factor a person has in their blood, and a partial thromboplastin time test, which measures how quickly a person’s blood clots.

Hemophilia and ITP Treatments

Given that hemophilia and ITP have different underlying causes, they have significantly different treatments. Hemophilia treatments work to compensate for clotting-factor issues, while ITP treatment tends to focus on increasing platelet counts.

Treatments for Hemophilia

Hemophilia treatment focuses on replacing clotting factors. Replacement clotting factors can be made from donated blood or produced in a lab, called recombinant clotting factors.

In mild cases of hemophilia A, a hematologist also may prescribe desmopressin, sold under several brand names including Stimate and DDAVP. This hormone can coax more clotting factor out of your body.

Antifibrinolytics, also known also as clot-preserving medications, can help prevent clots from breaking down. Aminocaproic acid (Amicar) and tranexamic acid (Cyklokapron) are some examples of antifibrinolytics used to treat hemophilia.

People with hemophilia may also take preventive treatments. The U.S. Food and Drug Administration (FDA) approved emicizumab-kxwh (Hemlibra) for hemophilia A in 2017. This weekly injection is part of a group of medications called biologics. It helps the blood clot.

Over the past few years, gene therapy has emerged as a new hemophilia treatment. It works by instructing your body about how to make the clotting factor you’re missing.

The two gene therapies that have been FDA-approved for treating hemophilia are valoctocogene roxaparvovec-rvox (Roctavian) for hemophilia A and etranacogene dezaparvovec-drlb (Hemgenix) for hemophilia B.

Treatments for ITP

People with mild ITP may not need treatment at all, beyond regular platelet checks. Children living with ITP often improve without any kind of treatment. But for many adults, ITP worsens over time and most will eventually need treatment.

If a person living with ITP does require treatment, a doctor may prescribe medications such as:

• Steroids — Help to reduce the production of antibodies against platelets
• Immunoglobulin — Temporarily works to treat ITP with a shot of antibodies
• Thrombopoietin receptor agonists — Help bone marrow produce more platelets
• Immunosuppressives — Reduce the immune system response that damages platelets

Side effects vary from medication to medication and person to person, so make sure to ask about them when starting a new prescription.

In more severe cases, a doctor may recommend a splenectomy (removal of the spleen). The spleen produces the antibodies that attack platelets in ITP. The spleen also destroys antibody-coated platelets, so removing it may help — though it can put you at greater risk of infection. Your doctor may also recommend a platelet transfusion, which is when platelets from a donor are injected into your bloodstream.

Talk With Others Who Understand

MyHemophiliaTeam is the social network for people with hemophilia and their loved ones. On MyHemophiliaTeam, more than 6,000 members come together to ask questions, give advice, and share their stories with others who understand life with hemophilia.

Do you have questions about the differences between bleeding disorders? Share your experience in the comments below, or start a conversation by posting on your Activities page.