Fanconi Anaemia

Fanconi Anaemia is a rare inherited bone marrow failure disorder that affects the body's ability to produce healthy blood cells. It is usually caused by genetic changes that impair the repair of damaged DNA, making cells more vulnerable to injury. The condition may gradually lead to reduced production of red blood cells, white blood cells, and platelets.

Symptoms can vary considerably between individuals. Common features include persistent tiredness, frequent infections, easy bruising, bleeding, and pale skin. Some people may also have physical differences such as short stature, abnormal development of the thumbs or forearms, skin pigmentation changes, or kidney abnormalities. Developmental and fertility problems may occur in some affected individuals.

Fanconi Anaemia also increases the risk of developing certain cancers, particularly blood-related cancers and cancers of the head, neck, and other tissues. Diagnosis may involve blood tests, bone marrow examination, chromosome breakage testing, and genetic analysis.

Treatment depends on the person's age, symptoms, blood counts, and overall health. Supportive care may include blood transfusions, medicines that stimulate blood cell production, and infection management. A stem cell transplant may be considered for severe bone marrow failure. Regular monitoring is essential for detecting complications and cancer risks early. Genetic counselling can also help affected individuals and families understand inheritance and available testing options.