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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.