What are inherited bone marrow failure syndromes?

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.

What is bone marrow failure?

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:

• Low red blood cell (RBC) count (anaemia)
• Low platelet count (thrombocytopaenia)
• Low white blood cell (WBC) count (leukopaenia)
  

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:

• Fanconi anaemia (FA)
• Diamond-Blackfan anaemia (DBA)
• Dyskeratosis congenita (DC) / telomere biology disorders (TBD)
• Shwachman-Diamond syndrome (SDS)