Fanconi anemia is associated with bone marrow dysfunction, which may range from mild depression of the bone marrow through to severe suppression causing aplastic anemia, myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML).

Bone marrow failure

In Fanconi anemia, key components of the blood (red blood cells, white blood cells and platelets) fail to be produced and the body’s ability to deliver oxygen, fight infection and form blood clots is weakened.

Many sufferers of the condition develop acute myeloid leukemia (AML) and older patients are very likely to develop solid tumors including head and neck cancer, esophageal cancer, gastrointestinal cancer and vulva and anal cancers.

Among individuals with Fanconi anemia, the blood count is usually normal at birth and a condition called macrocytosis (the presence of large red blood cells) is usually the first abnormality to be picked up as a symptom of the condition. This often happens within the first decade of life and the average age of onset is 7 years.

Over the following ten years, more than half of those with hematological abnormalities will go on to develop pancytopenia which refers to a reduction in the number of red and white blood cells as well as platelets. The most common pattern of abnormality is thrombocytopenia (a low platelet number) followed by neutropenia (low white blood cell count). Patients with these blood cell deficiencies are at an increased risk of suffering a hemorrhage or infection.