Fanconi anaemia (FA) is a type of bone marrow failure syndrome. It is a genetic condition and is caused by loss of ability to repair certain types of DNA damage that can occur in cells of a person’s body.¹ This is due to genetic changes (variants) in one of more than 20 different genes associated with DNA repair pathway in cells.^1-2 It can result in accumulation of DNA damage in the genome, chromosomal instability and breakage, and abnormal cell growth. Individuals with FA may be born with certain physical abnormalities and often have progressive depletion of blood cells (pancytopenia) with bone marrow failure as well as increased risk of cancer.^2,3 FA can affect many organ systems of the body, and the symptoms and severity can vary widely between individuals.²

FA affects both males and females and may be diagnosed during childhood or adulthood.⁴ It should be noted that FA is a different condition from Fanconi syndrome (a kidney disorder) and Fanconi-Bickel syndrome (a glycogen storage disorder).^4,5

Synonyms: Fanconi pancytopenia.³

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.

ORPHA:84 Fanconi anemia

ICD-11: 3A70.0 Congenital aplastic anaemia

FA is typically characterised by physical abnormalities that are often present from birth, progressive depletion of blood cells (pancytopenia) with bone marrow failure and an increased risk of certain types of cancer.^2,3 These characteristics may not be present in all individuals with FA.²

The physical abnormalities that have been associated with FA include short stature, small undeveloped head size (microcephaly), abnormally small undeveloped eyes (microphthalmia), skin pigmentation and skeletal defects affecting the limbs, hips, or ribs.^1-5 There may also be structural issues with the kidney, heart, and genitourinary (reproductive and urinary) system affecting fertility.^1-6

Individuals with FA often have enlarged red blood cells (macrocytosis) and bone marrow failure (BMF), which is when the bone marrow does not make enough blood cells.^1,2 This results in low red blood cells (anemia), low platelet levels (thrombocytopenia) as well as low counts of white blood cells like leukocytes (leukopenia) and neutrophils (neutropenia). This can cause frequent infections, and excessive bruising and bleeding.⁴

There is a higher risk of developing cancers such as acute myeloid leukemia and solid tumours particularly in the head and neck, skin and genitourinary area.^1-5

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.

FA is a genetic condition. It is caused by disease-causing genetic changes (variants) in specific genes that are associated with the DNA repair pathway in cells.¹ More than 20 different genes have been identified to cause FA.^1,2 Genetic variants in either the FANCA, FANCC or FANCG genes are responsible for most cases of FA.^2,4 Please visit GeneReviews®: Fanconi Anemia (Diagnosis) for more information about the different causal genes for FA.

Most FA conditions are inherited in an autosomal recessive manner. Autosomal dominant inheritance and X-linked inheritance have also been observed for some types of FA.^2-4 More information about inheritance patterns can be found at:

• Centre for Genetics Education: Autosomal recessive inheritance
• Centre for Genetics Education: Autosomal dominant 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

FA may be diagnosed through physical examination identifying characteristic symptoms of FA, blood tests to look at blood cell levels, and confirmed through cytogenetic testing to look for chromosomal breakage and testing for genetic changes in FA genes.^1,2,4

Imaging studies may be performed to look for skeletal and internal structural abnormalities associated with FA.^1,2,4

FA may be diagnosed in children and adults. It has been recommended that a FA diagnosis is considered in individuals that present with:²

• Progressive bone marrow failure
• Aplastic anemia
• Myelodysplastic syndrome (MDS)
• Acute myelogenous leukemia (AML)
• Solid tumours such as squamous cell carcinoma of the head, neck, throat (oesophagus) and external female genitalia (vulva), as well as cancer of the cervix and liver
• Severe reactions/toxicity to chemotherapy and radiation treatment

Please speak to your medical team to learn more about the available diagnostic pathways for FA.

Treatment for FA is targeted at managing the various symptoms and complications and often requires a multidisciplinary medical team, particularly as multiple organs may be affected.^1-2 This may include, but is not limited to, therapies to manage blood cell levels, bone marrow transplant, surgery to treat structural abnormalities and cancer treatment.

Individuals with FA have been recommended to:^1-2

• avoid smoking as well as second-hand smoke, alcohol, excessive sun exposure and other carcinogenic agents that may increase the risk of chromosomal breakage
• use of imaging techniques that involves radiation, such as X-rays and CT (computed tomography) scans, may be less ideal, unless when no better alternatives are available. Magnetic resonance imaging (MRI) and ultrasounds may be preferred as a diagnostic tool
• have human papilloma virus (HPV) vaccination to reduce the risk of developing HPV-related cancers
• have assessment and regular monitoring for bone marrow failure and cancer

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 FA may include general practitioners (GP), paediatricians, geneticists, haematologists, oncologists, cardiologists, nephrologists, urologists, gastroenterologists, dermatologists, endocrinologists, neurologists, surgeons, ophthalmologists, otolaryngologists, psychologists/ counsellors, and family support workers.^2,4,6 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 FA in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

The Fanconi Anemia Clinical Care Guidelines (2020) is a publication of the Fanconi Cancer Foundation, United States. The contributing authors include physicians and clinical care providers with expertise in treating patients with FA.

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 FA at emergency departments/services:

• it has been recommended that a detailed medical history should be taken, as symptoms and presentation of FA can vary widely between individuals and FA can affect many organ systems of the body.
• magnetic resonance imaging (MRI) and ultrasounds may be preferred over imaging techniques that involves radiation, such as X-rays and CT (computed tomography) scans, except when necessary during emergencies or when no better alternatives are available.

Fanconi Anaemia Support Australasia: FA Research has information on FA research 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 Organisations:

Fanconi Anaemia Support Australasia (FASA)
Website: https://fasa.org.au

FASA aims to bring together people and families affected by FA in Australia, New Zealand and beyond by creating opportunities for connection through camps, family meetings, social media and through the incredible bond which is created when two or more gather with such a rare disease.

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.

FA varies between individuals, and each person’s experience is unique.

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.

Fanconi Anaemia Support Australasia (FASA) organises meetings for people with Fanconi anaemia (FA). More information about these meetings can be found at Fanconi Anaemia Support Australasia: Family Meeting.

Maddie Riewoldt’s Vision offers a Telehealth Nurse Service that provides support and education for Australians with bone marrow failure syndrome.

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 FA can be found at:

• Fanconi Anaemia Support Australasia: Resources
• Genetic and Rare Diseases (GARD) Information Center: Fanconi anemia
• National Organization for Rare Disorders (NORD): Fanconi Anemia

• GeneReviews® : Fanconi Anemia
• Orphanet: Fanconi anemia
• Human Phenotype Ontology: Fanconi Anemia

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Fanconi Anaemia Support Australasia.

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.