What are the Causes of Fanconi Anemia and Its Effective Treatment

Fanconi’s Anemia or FA is one of the most frequently reported and treated type among the rare inherited bone marrow failure syndromes or IBMFS. This is a dangerous condition wherein the body isn’t producing enough numbers of all types of blood cells. The syndrome also leads to an increased risk of developing other medical conditions including birth defects and cancers.

Fanconi Anemia

  • This is a rare type of inherited disease.

  • Children must get one copy of the abnormal gene from both the mother and father in order to inherit the disease.

  • The disease is caused by the presence of an abnormal gene. This abnormal gene damages cells and prevents the repair of DNA.

  • Common age group diagnosed with this condition is children between the ages of 2 to 15 years old.

  • A child or adult diagnosed with this condition is often clinically found to have decreased production of all different types of blood cells in the body.

Fanconi’s Anemia Symptoms

Symptoms often seen and observed through medical history and examination in patients with FA include:

  • Heart, lungs, and digestive tract defects

  • Skeletal system problems

  • Skin color changes

  • Deafness

  • Ear abnormalities

  • Improper kidney development

  • Arms and hands defects

  • Short

  • Small head

  • Genital abnormalities and small testicles

  • Failure to thrive

  • Low birth weight

  • Mental retardation

  • Learning disabilities

Fanconi’s Anemia Causes

  • The presence of faulty or abnormal genes in the body can cause FA.

  • There are at least 13 faulty genes in patients with FA.

  • Both parents must pass these genes to the children in order for a diagnosis of FA to be made.

  • Parents that carry the faulty FA gene can produce the following probabilities:

    • 25% chance of producing children with FA.

    • 25% chance of not producing children with FA.

    • 50% chance of producing FA carrier children.

  • FA carriers carry only one faulty FA gene. Carriers do not have FA but can pass the gene to their children.

What are the Treatments for Fanconis’s Anemia

Patients with FA often visit various specialists such as hematologist, endocrinologist, ophthalmologist, orthopedist, gynecologist, and nephrologist. Treatment of FA focuses on treating the symptoms presented by the child and includes:

  • Repeated transfusions of blood and blood components.

  • Frequent check-ups to monitor blood count.

  • Regular monitoring and screening for cancer development.

  • Administration of growth factors to help improve blood counts.

  • Bone marrow transplant to cure problems with blood count in FA patients.

  • Hormone therapy given together with low dose steroids.

  • Antibiotic regimen.

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