Bone marrow failure syndromes (BMFS) are a group of conditions that affect the bone marrow. Bone marrow is the spongy tissue in our bones that produces blood cells in a process called haemopoiesis.¹ In BMFS, the bone marrow is not working properly to produce blood cells, leading to low blood cell count.² The low blood counts can affect the body as these blood cells have essential functions such as:¹ 

• red blood cells transport oxygen and nutrients to all parts of the body 
• white blood cells fight infection, produce antibodies, and are a vital part of the immune system 
• platelets help blood clot and stop bleeding 

There are several different types of BMFS. In some types of BMFS, there may be low levels of all blood cells, whilst in other conditions, only a specific type of blood cell may be affected.^3,4 The different types of BMFS include: 

• Aplastic anaemia 
• Fanconi anaemia 
• Congenital amegakaryocytic thrombocytopenia  
• Dyskeratosis congenita 
• Diamond-Blackfan anaemia  
• Paroxysmal nocturnal hemoglobinuria (PNH)  
• Shwachman-Diamond syndrome 
• Severe congenital neutropenia  
• Thrombocytopenia with absent radii syndrome 
• Reticular dysgenesis 

More of these individual pages will be developed in time. Maddie Riewoldt’s Vision: Types of Bone Marrow Failure Syndromes has more information on various types of BMFS.  

BMFS can be inherited or acquired due to external factors.³ Both children and adults can be affected, depending on the specific condition.  

Synonyms: bone marrow failure, BMF, BMFS.^3,5 

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

There is no ORPHAcode. 

ICD-11: 3C0Z Diseases of the blood or blood-forming organs, unspecified 

There are a wide range of signs and symptoms for the different types of BMFS, and severity may vary. Some of the signs and symptoms include:²

• progressive depletion of blood cells (pancytopenia) 
• low red blood cells (anaemia) 
• low counts of white blood cells like leukocytes (leukopenia) and neutrophils (neutropenia) 
• low platelet levels (thrombocytopenia) 
• frequent infections 
• excessive bruising and bleeding 

Bone marrow failure can lead to other complications include bleeding (haemorrhage), infections, cancers, lymphoproliferative disorders (uncontrolled production of lymphocytes, a type of white blood cell), congenital malformations, treatment-related complications and issues in various other organs such as skeletal, heart, lung, kidney, liver, eye, ear, adrenal gland, pancreas, and skin.^2-4,6 

Please speak to your medical team to learn more about the symptoms and complications for a specific type of BMFS. 

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

BMFS can be inherited or acquired due to external factors.³ Acquired bone marrow failure may be due to viral infections, drugs, chemicals, radiation, cancer, autoimmune, and other unknown factors. 

Inherited bone marrow failure syndromes are genetic conditions that are typically passed down from parents in an autosomal recessive manner, with some conditions inherited in a X-linked recessive or autosomal dominant manner.³ Some of these conditions can also occurs randomly (de novo) prior to birth.

More information on the relevant inheritance patterns can be found at: 

• Centre for Genetics Education: Autosomal dominant inheritance 
• Centre for Genetics Education: Autosomal recessive inheritance 
• Centre for Genetics Education: X-linked inheritance 

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at: 

• Information on Genetic Services 
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed 

There are no published consensus clinical diagnostic criteria for BMFS. 

Diagnosis of BMFS may be made based on physical examination, medical history including exposure to medications and chemicals, family history, blood tests including blood film examination, bone marrow biopsies, and imaging tests. For inherited BMFS, diagnosis may be confirmed with gene sequencing.^3,6  

A differential diagnosis can rule out other conditions that have similar symptoms, includes myelodysplastic syndromes, large granular lymphocytic leukemia, acute myeloid leukemia.³

Please speak to your medical team to learn more about the available diagnostic pathways for a particular BMFS. 

Treatment will depend on the type and severity of the BMFS. It may also depend on whether it is inherited or acquired BMFS.⁷ For some individuals, a bone marrow transplant may be a curative treatment³; however, for others and for certain types of BMFS, bone marrow transplant may not be suitable.⁶  

Other treatments are mainly aimed at counteracting the effect of low blood count and managing symptoms and complications. These include glucocorticoid or growth factor therapy (to stimulate blood cell production), blood transfusion, immunosuppressants, infection prophylaxis (prevention measures) and treatment of infections.^2-4 

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of BMFS may include general practitioners (GP), haematologists, oncologists, pathologists, clinical geneticists, transfusion practitioners, and nurses.³ The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here. 

We are not aware of any clinical care guidelines for BMFS in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page. 

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider the following when managing individuals living with BMFS at emergency departments/services: 

• individuals may have life-threatening complications such as severe bleeding, anaemia, neutropenia, risk of sepsis and septic shock, and may need urgent blood or platelet transfusion or the initiation of broad spectrum antibiotics.⁶ 

The Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (AAR) is a clinical quality registry that collects health information of people diagnosed with aplastic anaemia and inherited BMFS in Australia. The AAR is managed by Monash University’s School of Public Health and Preventive Medicine, through the Transfusion Research Unit. 

The Australian Marrow Failure Biobank (AMFB) works in partnership with the AAR to collect and store biological samples from patients, supporting vital translational research into the causes, diagnosis, and treatment of BMFS. 

Maddie Riewoldt’s Vision: Research has information on BMFS research in Australia, including the Centre of Research Excellence in Bone Marrow Biology which promotes researcher collaboration and catalyses innovation in BMFS in Australia.  

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

Australian Organisation

Maddie Riewoldt’s Vision  

Website: https://www.mrv.org.au/ 

Maddie Riewoldt’s Vision funds research that accelerates next generation prevention, diagnosis and treatment of bone marrow failure syndromes, while supporting patients and families. 

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

BMFS vary between individuals, and each person’s experience is unique.  

Please visit Maddie Riewoldt’s Vision: Personal stories to read the personal stories of people living with BMFS. 

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

Maddie Riewoldt’s Vision Tele-Support Service Nurse provides support and resources for anyone impacted by BMFS. 

Maddie Riewoldt’s Vision Peer Support Program is a virtual space for people and families to share lived experiences and provide peer support.  

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on BMFS can be found at:  

• Peter MacCallum Cancer Centre: Genetic testing for Bone Marrow Failure Syndromes (BMFS) 

• Aplastic Anemia and MDS International Foundation (AAMDSIF) 

Maddie Riewoldt’s Vision: For Health Professionals 

Melbourne Genomics Health Alliance Bone Marrow Failure Clinical Flagship (2018-2019) 

Aplastic Anemia and MDS International Foundation (AAMDSIF): Health Professionals

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Maddie Riewoldt’s Vision. 

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.