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Inherited bone marrow failure syndromes (IBMFS) are a group of genetic conditions characterised by the inability of the bone marrow to produce sufficient blood cells.
These syndromes are usually caused by a fault (i.e., mutation) in a gene that is meant to repair DNA (the instructions our body needs to function). This may lead to bone marrow failure, and in some cases, a higher risk of developing solid tumour(s) and/or blood cancer such as acute myeloid leukaemia (AML).
Not all cases of bone marrow failure are inherited and passed down within families. Some cases may be acquired – caused by environmental factors, chance events and age.
Genetic testing can help identify if a person’s medical history is caused by a faulty gene that may be inherited.
The bone marrow contains blood stem cells, which function to produce the different types of blood cells.
Individuals with bone marrow failure typically start by exhibiting low blood count(s) in the following cell types:
IBMFS may present at birth, infancy or childhood, and sometimes in adults. Both males and females can be affected.
The 4 most common IBMFS are:
Different tests are used to diagnose and differentiate IBMFS.
You should consider genetic testing if you or your family members meet one or more of the following criteria:
If a faulty gene is identified, it can help guide your options for treatment and management.
If you are currently asymptomatic, it can help guide relevant screening and blood tests to detect bone marrow failure or cancer at its earliest, most treatable stage.
Genetic testing to identify these faulty genes will allow for personalised treatment and management options.