Glanzmann thrombasthenia (GT) is a rare blood clotting disorder. It’s caused by genetic mutations that affect your platelets, and it can make you more prone to excess bleeding.

Chances are, you don’t think anything of a small occurrence like a paper cut or the occasional nosebleed. But for people with Glanzmann thrombasthenia (GT), these relatively normal events can be life threatening.

GT is a rare blood clotting disorder that makes it harder for your platelets to stick together. Platelets are round cells in your blood that help it clot. Because of this mutation, people with GT may experience prolonged and spontaneous bleeding as a result of a genetic mutation.

Read on to learn more about GT, symptoms to look for, and how it’s managed.

Individuals with GT have normal platelet counts. However, they can experience abnormal bleeding because their platelets are unable to aggregate typically.

GT is a rare blood clotting condition that only affects an estimated 1 in 1 million people worldwide. While you can have it at any age, it’s typically discovered in children and young adults.

The condition is slightly more common in females, but it can happen to anyone.

If you have GT, you may bleed for a prolonged time. You can also experience spontaneous bleeding from areas like your gums or nose.

People who menstruate may also have prolonged or heavy menstrual bleeding as well as excessive bleeding during childbirth.

The degree of bleeding and bruising an individual experiences varies depending on the exact genetic mutation. Because of this, some people report that their symptoms improve as they age.

GT is caused by a mutation to the chromosome 17q21. This impacts the TGA2B or ITGB3 genes.

There are hundreds of different mutations that can cause GT. You may display symptoms of GT if you carry two copies of the same recessive mutation or a combination of different single recessive mutations.

In extremely rare cases, you can also develop GT from an autoantibody, which are proteins your immune system produces that attack your own cells. However, GT is typically inherited genetically.

Diagnosing GT typically begins by considering your bleeding history. If your doctor determines that you have abnormally frequent or severe bleeding, they may next request a series of laboratory tests to rule out more common causes of bleeding.

If necessary, your doctor may then suggest more specific platelet aggregation tests or genetic testing.

Some people with mild symptoms are never diagnosed with GT. They might also find out incidentally when they have surgery or give birth.

Taking preventive steps to prevent bleeding is an important part of GT management.

Treatment may vary depending on the degree of bleeding. Options can include:

In some cases, a stem cell transplant may be suggested to help cure GT.

GT research has been pivotal in advancing scientific and medical knowledge about platelets. Studying all of the different genetic mutations that result in GT has offered insight into how platelets come together to form clots.

Research into gene editing and gene transfer to treat GT is ongoing. Experts hope that future insights from this research can help them develop better treatment options.

GT can result in severe bleeding. However, your risk for this can vary depending on the genetic mutation you have — there are a multitude of genetic mutations responsible for GT, and some tend to result in more severe bleeding than others.

Chronic mild bleeding may also lead to iron deficiency anemia. Although this is not as serious as excessive bleeding, it’s important that it be treated when it’s identified. If you have anemia, your doctor may recommend making changes to your diet and taking iron supplements.

In general, it’s important to see a doctor if:

  • a wound is deep, large, or has jagged edges (especially if the edges won’t close)
  • you notice signs of infection like unusual discharge, a fever, or increasing redness or pain
  • an object is lodged in the body or you’re unable to fully clear debris like grass and gravel from a wound
  • a wound is due to a bite or something rusty

If you have GT, it’s important to talk with a doctor:

  • anytime heavy bleeding occurs
  • before undergoing surgical procedures
  • if you’re pregnant or planning to become pregnant

GT is a rare blood clotting condition. It’s caused by a genetic mutation that prevents an individual’s platelets from stopping bleeding. Signs of GT, like serious prolonged bleeding or spontaneous bleeding, often begin in childhood.

Unusual heavy bleeding should be taken seriously. Even if your platelet count is normal, your platelets may not be functioning as expected. If you have severe bleeding, your doctor can perform blood tests to help determine why this is occurring.