Fanconi Anemia (FA)
What is it?
Fanconi Anemia (FA) is a rare genetic disorder from the group of inherited bone marrow failure syndromes. The genes mutated in Fanconi anemia are genes that carry instructions to help the body repair certain types of DNA damage. Symptoms include typical physical characteristics and often may lead to a progressive deficiency in all bone marrow production Fanconi anemia complications may include bone marrow, aplastic anemia and cancers such as acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). Patients who live into adulthood are likely to develop head and neck, gynecologic, and/or gastrointestinal cancer at a much earlier age than the general population, whether or not they had earlier blood problems. FA occurs equally in males and females, and is found in all ethnic groups. It is usually inherited as an autosomal recessive genetic disorder, but X-linked inheritance has also been reported.
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Signs & symptoms
Fanconi anemia symptoms usually begin between the ages 5-10 years. Symptoms may include short stature, thumbs and arms abnormalities- an extra or misshapen thumbs and fingers or incompletely developed or missing radius bone, skin pigmentation, anatomical kidney problems, small head, developmental delay, failure to thrive, delayed puberty, gastrointestinal difficulties, small reproductive organs in males, fatigue, shortness of breath, irritability, pale skin color, dizziness and easy bruising.
Diagnosis
Diagnosis starts with medical history and upon findings in physical examination that will search the typical abnormalities and visible symptoms such as cafe au lait spots.
Blood tests may be performed to check for low white blood cell, red blood cell and platelet counts. A blood test called a chromosomal breakage test is the gold standard genetic test to confirm the diagnosis of FA.
Treatment
Children with Fanconi anemia should be monitored and get regular care. They may benefit from transfusion support and white blood cell count support with a granulocyte-colony stimulating factor (G-CSF). Androgen helps some of the patients to produce more blood red cells and platelets. The only available curative treatment is bone marrow transplant, during which unhealthy stem cells are destroyed and replaced with healthy ones. Other treatments may be personalized according to the patient’s different needs.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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