Fanconi Anemia: Symptoms, Causes and Treatment

Fanconi anemia is an autosomal recessive disease ( Inheritance) characterized by bone marrow failure leading to pancytopenia. It is one of the causes of aplastic anemia. Patient is always predisposed to malignancy. It is a complex and chronic disease that can affect all systems of the body.

Fanconi Anemia Causes

• It is a genetic DNA repair disorder caused by mutations in a group of genes. 
• Fanconi anemia genes protect the DNA from damage throughout life but when these mutate, the protiens that typically repair the DNA damage are not able to work and cannot fix damaged DNA. 
• There is an abnormal cell death that leads to physical abnormalities and also the blood cell count reduces.
• Most common malignancy seen is Acute Myeloid Leukemia.

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Fanconi Anemia Inheritance

There is a 25% chance that parents who carry these genes will have a children who develops the disease.

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Fanconi Anemia Symptoms/Features

• Anemia related symptoms like Fatigue, paleness aCBCnd difficulty catching breath.
• Hand and Thumb abnormalities
• Shorter or missing radius
• Psychological and developmental delays
• Hearing loss
• Strabismus
• Abnormal blood cell count
• Malignancy like Myelodysplastic Syndrome and AML
• Cancer of Head and Neck.

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Fanconi Anemia Diagnosis

• The physical abnormalities , History of disease in parents and any cancers can help clinicians detect the disease.
• To confirm the diagnosis following tests can be done-
  • CBC
  • Reticulocyte count
  • BMP
  • Bone marrow biopsy
  • MRI
  • Ultrasound
• Genetic screening can be done to look for specific genes.

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Fanconi Anemia Treatment

• Bone Marrow Transplant can can be done to treat leukemia or Bone marrow failure.
• Growth factors can be provided to stimulate the Bone marrow.
• Surgeries can be done to correct the physical abnormalities.

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