Fanconi Anaemia

Fanconi Anaemia is a rare inherited genetic condition which primarily affects the bone marrow and results in a decreased production of red blood cells, white blood cells and platelets. This is because of mutations in genes that fix damaged DNA, which make cells more prone to genetic errors. Most cases are inherited in an autosomal recessive way, while other unusual variants are inherited in different ways.

Symptoms typically occur in youth and can include weariness, constant weakness, recurrent infections, easy bruising, protracted bleeding, and delayed growth. Physical differences are common at birth, including shortness, alterations in thumb or arm size, skin colour variations, kidney problems, and developmental delays. Progression of the disease can result in severe bone marrow failure, which can lead to pancytopenia and an increased risk of life-threatening consequences.

People with Fanconi Anaemia also have a much increased chance of developing acute myeloid leukaemia (AML) and other solid malignancies, particularly of the head, neck and reproductive organs. Diagnosis requires a full blood count (CBC), chromosomal breakage tests, bone marrow examination and genetic testing to identify the causative mutation.

Treatment depends on the severity of the condition and may include blood transfusions, antibiotics, growth factors, androgen therapy, and supportive care. Haematopoietic stem cell transplantation is currently the most effective treatment for bone marrow failure. Improved survival and quality of life require long-term follow-up and routine screening for cancers.