Bone marrow failure disorders

Bone marrow failure disorder (BMFD) stops the body making blood cells properly. A BMFD is not cancer. But parts of the treatment are similar to cancer treatment. So if your child has a BMFD, they may be offered care in a cancer centre for children. 

This information explains what happens when your child has a BMFD. There are different types of BMFD, so it also tells you a bit more about each one.  

All types of BMFD are rare, which makes it hard to find reliable facts. You can always contact us at CLIC Sargent for more information and support.

About your bone marrow

Bone marrow is the spongy tissue inside your bones. When something goes wrong with your bone marrow, this has an effect on your blood. 

It’s because your bone marrow is like a factory for your blood cells and is home for a special type of cells called stem cells. These cells can make lots of new cells which mature to become the different types of blood cell your body needs, including:

  • Red blood cells, which carry oxygen around your body
  • Platelets to stop bleeding
  • White blood cells to fight infections.

Bone marrow failure disorders (BMFD) mess up this process. 

There are different types of BMFD. They have some things in common, and some important differences.

What are the symptoms?

When bone marrow is damaged, the symptoms can include: 

  • being really tired 
  • feeling breathless 
  • getting dizzy 
  • having headaches
  • looking pale 
  • running a fever 
  • getting lots of infections 
  • getting bruises
  • having nosebleeds or bleeding gums. 

Not everyone with these symptoms has a BMFD; there might be another reason. 

How is it diagnosed?

It’s really important to find out what’s causing these symptoms because that will decide the best treatment for your child. In general, they might have: 

  • A check-up and questions from your doctor
  • Blood tests
  • Bone marrow tests
  • Gene tests, if your doctor is looking for an inherited BMFD (one that runs in the family). 

How is it treated?

The treatment depends on what kind of BMFD your child has, how the condition is affecting them, and how healthy your child is generally. Some treatments for BMFD can include: 

  • Keeping a careful eye on the condition 
  • Blood or platelet transfusions 
  • Drug treatment 
  • Hormone treatment 
  • Stem cell transplant (also called a bone marrow transplant). 

You can read more in our general information about stem cell transplants. It’s important to know that this treatment is often a bit different for a BMFD than it is for cancer. For example, if you’re given chemotherapy or radiotherapy as part of your treatment, you might have a lower dose. 

After treatment

Once your child's initial treatment is finished, your team will continue looking after their health. 

When someone has cancer, they will have follow-up care for a set period of time. But when you have a BMFD it’s different. Your child may be offered lifelong follow-up. 

Having a BMFD increases the chance of developing some types of cancer later on, so regular check-ups can help catch any early signs that might appear. 

Your care team can also help you manage any longer term effects of your child's treatment, and support them in staying well generally.

Having a BMFD is bound to affect your child's life and that might not go away as soon as their treatment is finished. Your care team will understand that, and they will be ready to help when you and your child need it. 

Different types of BMFD

Bone marrow failure disorder (BMFD) is a general term. There are several different conditions that fall under this category. They include:

No matter what type of BMFD your child has, your CLIC Sargent Social Worker will understand what you’re going through. They can help you find information, and offer the same kind of support that’s available for parents of children with cancer. You can also contact CLIC Sargent directly for support.

Aplastic anaemia

In aplastic anaemia, bone marrow does not make enough red blood cells, white blood cells and platelets. 

It has many possible causes. Aplastic anaemia may happen because of: 

  • an autoimmune condition (where the body attacks its own tissues) 
  • an infection with a virus
  • a rare side effect of certain drugs 
  • being pregnant
  • a side effect of chemotherapy or radiotherapy, which you had for cancer.

Sometimes the stem cell destruction seen in aplastic anaemia is caused by an inherited BMFD. Often, the cause can’t be found. 

Your child's best treatment will depend on their individual situation.  

Inherited bone marrow failure disorders

Some types of BMFD are inherited. That is, they are due to genes that can be passed down through parents, although sometimes no other members of the family appear to have the abnormal gene and it may have arisen for the first time in your child's case. 

Your child can ask to see a genetic counsellor to learn more about how these conditions run in the family. A genetic counsellor can also offer support when your child is making your decisions about having children themselves. 

With inherited BMFD, there is an increased risk of developing cancer. So people with an inherited BMFD need regular check-ups, to catch any possible cancer signs at an early stage. 

The tests and your child's best treatment will depend on their individual situation. 

Fanconi anaemia 

This condition affects about 1 in 160,000 people. It happens about equally in males and females but is more common among families from Ashkenazi Jewish, Spanish Roma and South African backgrounds. 

With Fanconi anaemia, bone marrow can stop making enough red blood cells, white blood cells and platelets. 

Some people with Fanconi anaemia have coloured patches on their skin (pigmentation) and physical or learning problems that appear at a young age. People with this condition can also have a short height. But other people don’t show any obvious signs. 

Dyskeratosis congenita (DKC)

Dyskeratosis congenita (DKC) affects about 1 in a million people. Males are more likely to have it than females. DKC can stop bone marrow making enough red blood cells, white blood cells and platelets. It doesn’t happen to everyone, but some people with DKC have learning problems. DKC can affect many parts of your body, especially your skin, hair, fingernails and mouth. It can also cause scar tissue to form in your lungs and liver. Some people don’t show obvious signs of the condition. 

Shwachman-Diamond syndrome (SDS) 

About 1 in 350,000 people have Shwachman-Diamond syndrome (SDS) and males are more likely to have it than females. With SDS, bone marrow may not produce enough white blood cells, which means you can catch infections easily. Sometimes there are also not enough red blood cells or platelets. SDS affects your pancreas, which is an organ that makes enzymes to help digest your food. So following a special diet and taking enzyme supplements might be part of the treatment. Some people with SDS have slower growth as children, problems with bone strength or their teeth, or learning difficulties. 

Congenital amegakaryocytic thrombocytopenia (CAMT) 

We’re not sure exactly how many people have congenital amegakaryocytic thrombocytopenia (CAMT). But it’s possible that between 10 and 15 people have this diagnosis every year in the UK. With CAMT, bone marrow does not make enough platelets. It can also stop making enough red blood cells and white blood cells. Most people with CAMT are diagnosed when they are babies or in childhood. One of the main problems with CAMT is bleeding that is hard to control. 

Diamond-Blackfan anaemia (DBA)

Around the world, Diamond-Blackfan anaemia (DBA) affects between 5 and 7 people in a million. With DBA, bone marrow does not make enough red blood cells. Males and females are about equally likely to have DBA. Most people who are known to have DBA come from a white ethnic background, but it seems it can affect people from most ethnic groups. DBA is almost always diagnosed in babies, but it can show up later in life. Sometimes people with DBA grow slowly as children and have a short height. Some people with DBA are born with physical signs of this condition, such as an unusual head, face or hand shape. They might also have problems with their eyes, heart or urine systems. Many people with DBA don’t have any of these other signs. 

Severe Congenital neutropenia/Kostmann’s syndrome  

With this condition, bone marrow does not make enough white blood cells, which normally fight against germs. This means you can easily catch a lot of infections. In most people with congenital neutropenia, the condition is noticed while they are babies. Other problems linked to this condition can take longer to show up. For example, some people with congenital neutropenia also have weak bones and a higher chance of getting a broken bone (fracture). 

Where next?

Updated August 2017, next review due 2020.