About Bone Marrow Failure Syndromes

Bone marrow is an important and complex organ, and quite literally our factory for blood cells. Healthy bone marrow works to produce new red and white blood cells and platelets every single day.

What are Bone Marrow Failure Syndromes?

Bone Marrow Failure Syndromes are a collection of medical conditions where the bone marrow stops working, or works insufficiently. 

This means that bone marrow stem cells can’t produce enough healthy red blood cells, white blood cells and platelets to meet the body’s daily requirements.

What are the symptoms of bone marrow failure?

When a person’s bone marrow no longer works properly, they become extremely sick. Some symptoms include:

• Reduced red blood cells results in anaemia. Symptoms of anaemia include pallor, shortness of breath, fatigue, dizziness, headaches, and lethargy. 
  
• Reduced white blood cells increase the risk of severe infections and fever.
  
• Reduced platelets, the cells responsible for clotting, means increased bleeding. Symptoms of low platelets include bruising.

What can cause bone marrow failure?

Bone Marrow Failure Syndromes may be acquired, meaning a previously healthy person can develop bone marrow failure. Bone Marrow Failure Syndromes can also be inherited in families where there may be a history of the condition.

Inherited bone marrow failure can lead to additional health challenges, including heart, skeletal malformations, kidney, eye and ear issues, and an increased risk of both solid organ and blood cancer.

How common are Bone Marrow Failure Syndromes?

Every year in Australia, up to 160 people will be diagnosed with a Bone Marrow Failure Syndrome. That’s more than 1 every 3 days, it’s considered a rare disease.

Of those diagnosed with Bone Marrow Failure Syndromes, only 50% survive.

How are Bone Marrow Failure Syndromes treated?

Treatments for Bone Marrow Failure syndromes are usually aimed at counteracting the effects of low blood cell counts:

• Blood transfusions for low red cells or platelets
• Growth factor medication, aimed at encouraging bone marrow to produce blood cells
• Antibiotics for infections
• Immune suppressant therapy is sometimes used for some Bone Marrow Failure Syndromes, such as acquired Aplastic Anaemia.
• Bone marrow transplant

How close are we to discovering a cure?

While some patients can manage their Bone Marrow Failure Syndrome with existing therapies, the only established cure is a bone marrow transplant.

If a family member is not a match for a bone marrow transplant, they will need to wait for an available and suitable match on the bone marrow donor registry. 

Bone marrow transplants don’t always work and have a high risk of failure or adverse side effects such as graft versus host disease (GvHD). When patients don’t respond to existing therapies, there aren’t many options available. 

That’s why Maddie’s Vision is here – to fund critical research and provide essential support, working towards improved outcomes for patients with Bone Marrow Failure Syndromes.