Glanzmann Thrombasthenia is a rare condition that affects only one person out of every million.^1,2 It was first discovered in 1918 and, if untreated, can have a big impact on the lives of the people who have it.² 

Most people with Glanzmann’s Thrombasthenia are diagnosed before they reach the age of five, and over 80% of people with Glanzmann’s Thrombasthenia are diagnosed before they are 14 years old.^3,2

This article will cover many facts about Glanzmann Thrombasthenia, including its causes and symptoms.

What is Glanzmann’s Thrombasthenia?

Glanzmann’s Thrombasthenia is a condition where a person’s platelets do not work very well because they are missing a protein which makes the platelets stick together.¹

Platelets are cells which are present in a person’s blood stream.⁴ In healthy individuals, if they start bleeding, then their platelets will stick together which helps the blood to clot.⁴

If someone has Glanzmann’s Thrombasthenia, their platelets do not stick together and therefore their blood does not clot properly.¹ Their platelets cannot clot because they are missing a protein on the outside of their cell walls.² This protein is called alpha IIb beta3.²

The job of alpha IIb beta3 is to attach to a substance called fibrin.² When part of the body has been injured, the body makes fibrin which is what tells platelets to stick together and make a blood clot so that the bleeding will stop.⁵ Given that the platelets of someone with Glanzmann’s Thrombasthenia cannot attach to fibrin as they do not have the alpha IIb beta3 protein, their blood does not clot very effectively and their bleeding can go on for a long time.²

What causes Glanzmann’s Thrombasthenia?

People with Glanzmann’s Thrombasthenia inherit it from their parents.²

Every person inherits genes from their parents.¹ These genes are the instructions for your body on how to do everything, from digesting food to creating mucous.¹ The gene which tells your body how to make alpha IIb beta 3 are the ITGA2B and ITGB3 genes.² 

Glanzmann’s Thrombasthenia is an autosomal recessive condition.² This means that, for a person to have Glanzmann’s Thrombasthenia, they must have inherited a mutated gene from both parents.¹

Homozygous Glanzmann’s Thrombasthenia

“Homozygous” means that a person has inherited the same genes from each parent.⁶ Homozygous Glanzmann’s Thrombasthenia means that the person with the condition inherited the same genetic mutation from both of their parents, which is what causes the Glanzmann’s Thrombasthenia.²

Heterozygous Glanzmann’s Thrombasthenia

“Heterozygous” means that someone has inherited different types of genes from each of their parents.⁷ If someone has Heterozygous Glanzmann’s Thrombasthenia, they have inherited a different kind of mutated gene from each of their parents (also known as being a compound heterozygote).² So both of their genes are mutated, but each of their genes has a different kind of mutation. This still results in Glanzmann’s Thrombasthenia.²

Acquired Glanzmann’s Thrombasthenia

This is a very rare form of Glanzmann’s Thrombasthenia.²

If someone has a blood condition, it can lead to them developing antibodies which attack the alpha IIb beta2 protein.² (Antibodies are proteins which attack things which should not be in your body, such as bacteria and viruses.⁸ However, sometimes antibodies can become confused and attack things which are meant to be there, like healthy proteins).²

If antibodies are developed against alpha IIb beta 2 proteins, this can cause Acquired Glanzmann’s Thrombasthenia.²

Who is at risk of Glanzmann’s Thrombasthenia?

People who are Assigned Female At Birth are more likely to have Glanzmann’s Thrombasthenia than those Assigned Male At Birth.²

The condition is normally noticed when the patient is a child or young adult, but it can become a problem at any age.²

People who live in areas with “high consanguinity” (when there are lots of people who are descended from one ancestor) are more likely to have Glanzmann’s Thrombasthenia, as there is a higher chance of many people inheriting the same mutated gene.² Examples of places with high consanguinity are certain areas of Canada (Newfoundland and Labrador) and Pakistan.²

Symptoms of Glanzmann’s Thrombasthenia

Glanzmann’s Thrombasthenia can cause many symptoms. These include:^1,3

• Blood in the patient’s wee
• Petechiae (tiny red spots of bleeding on the skin that look like pinpricks)
• Blood in the patient’s poo
• Bleeding from the gums
• Heavy periods 
• Nose bleeds
• Bruising easily
• Purpura (purple coloured patches on the skin)

People with Glanzmann’s Thrombasthenia usually bleed a lot from the skin or a mucous membrane (the nose or mouth) rather than elsewhere inside the body.³

These symptoms can be very mild, meaning that some people may have Glanzmann’s Thrombasthenia and not even know.² Unfortunately, in some cases the bleeding can be severe and cause problems like anaemia (iron deficiency) or even risk of death from loss of blood.³

Diagnosis

Your doctor will be able to help you or your child get diagnosed with Glanzmann’s Thrombasthenia.³

To be diagnosed with Glanzmann’s Thrombasthenia, testing must show that the patient has:⁹

• A normal number of platelets
• Normal platelet shape
• An abnormally long time between the start of bleeding and the time when bleeding stops.
• Platelets which do not clump together in the presence of aggregating agents (chemicals which normally make healthy platelets stick to each other)

Genetic Testing

If your doctor thinks that genetic testing is right for you, they will ask to collect a sample of your blood and/or spit which will then be sent to a laboratory to be tested.¹⁰ These tests will show whether you have a mutation in the genes that are in charge of making alpha IIb beta 3.³ This will help your healthcare team to know that it is Glanzmann’s Thrombasthenia and not a different health issue.³

Blood Tests

Blood tests involve a healthcare professional taking a little of your blood, normally from the inside of your elbow.¹¹ This usually takes about ten minutes.¹¹

These tests will let your healthcare team check:^3,12,13 

• The number of platelets in your blood
• Whether your platelets are a healthy size and shape
• How long your blood takes to clot
• Tests to see if your platelets have no/not enough alpha IIb beta 3 protein

These tests will help your doctor know if you have Glanzmann Thrombasthenia so that they can support you in the best way possible.

Treatment 

Your doctor and other healthcare providers will help you to keep your Glanzmann’s Thrombasthenia under control.

Haematology

Once you are diagnosed with Glanzmann’s Thrombasthenia, your doctor will probably refer you to a haematologist.³ Haematologists are specialists in blood and the tissues that make blood, so they are the best people to treat conditions like Glanzmann’s Thrombasthenia.¹⁴

Managing Bleeding

Your health team will teach you what to do if you are bleeding. 

Compression

If you are bleeding mildly, your doctor will teach you how to put pressure on the wound (compression) to help it to stop bleeding.³

Medications

If compression is not enough to stop the bleeding, you may have to use medications. These could be:³

• Taking a drug which stops your body breaking down fibrin (the protein which encourages your blood to clot)¹⁵
• Patches or liquid containing fibrin which you put on to the wound to help it clot¹⁶
• A gelatin sponge which helps the blood to clot¹⁷ 

Attending Hospital

If you are bleeding severely, or the above methods do not work, you may have to attend hospital.³ At the hospital, you may have:³ 

• A platelet transfusion (when healthy platelets from a donor are put into your blood)
• A blood donation (where donated blood is given to you to replace the blood you have lost)

Prognosis

Most people with Glanzmann’s Thrombasthenia manage their condition very well and have a normal life expectancy.³ 

If you have Glanzmnn’s Thrombasthenia, you can look after yourself by:³

• Learning what to do if you begin bleeding
• Knowing which medications to avoid (eg. medications which thin your blood)
• Wear a medic alert bracelet that will tell any emergency healthcare workers that you have Glanzmann’s Thrombasthenia
• Look after your teeth by brushing and flossing to reduce the chances of bleeding from your mouth
• Look after your nose (try to keep the air around you humid with a humidifier or nasal spray) to prevent nosebleeds
• Consider birth control to stop your periods if you have them

Conclusion

Glanzmann Thrombasthenia is a condition that is inherited from the patient’s parents and can cause long lasting episodes of bleeding.² It is usually noticed during childhood, for example when the patient loses their first tooth, is circumcised or has their first period.³

There is support available once the person is diagnosed and people with Glanzmann’s Thrombasthenia usually lead normal lives. More research is needed on a potential cure.