Fanconi Anemia

Fanconi anemia (FA) is a rare genetic blood disorder that affects your bone marrow and other organs. FA patients are more likely to develop blood problems and various malignancies. FA may also result in physical changes that alter people’s organs and looks. Fanconi anemia may have a variety of effects on your or your child’s body:

  • Approximately 75% of infants born with FA have physical abnormalities that might damage their appearance and several internal organs.
  • Bone marrow failure or dysfunction affects around 90% of persons with FA. This indicates that their bone marrow is not producing enough healthy blood cells.

Fanconi anemia is an uncommon condition. It affects 1 in every 160,000 persons on the planet. FA is most often diagnosed in youth or early adulthood. Anemia is a typical FA symptom. Fatigue, having trouble collecting their breath, headaches, and pale skin tone are other symptoms.

 

Fanconi anemia is a genetic condition caused by inherited mutations (single changes in genetic code) in a collection of protein-coding genes. FA genes defend us against DNA damage that occurs throughout our lives. When FA genes are mutated, proteins that normally repair regular DNA damage become ineffective and cannot repair damaged DNA. There is a 25% risk that a kid born to parents with faulty FA genes would have symptoms. Parents with aberrant FA genes have a 25% probability of not passing those defective genes on to their children.

Healthcare practitioners may use the following tests to identify blood diseases, blood malignancies, and solid tumors:

  • Reticulocyte count
  • Complete blood count (CBC)
  • Metabolic panel for beginners (BMP)
  • Biopsy of the bone marrow
  • MRI (magnetic resonance imaging)
  • Ultrasound

Typically, healthcare practitioners concentrate on therapies to control FA-related blood problems, such as:

  • Bone marrow transplantation
  • Synthetic growth factors
  • Androgen treatment
  • Surgery

The Fanconi Anemia patients face many complications during their life which include low Hemoglobin symptoms like tiredness, easy fatigue, Bleeding (nose bleeds, bleeding in brain, etc.), recurrent infections (Pneumonia, Fungal infections), different types of cancers including blood cancers are also common in Fanconi Anemia patients. Many such kids can have kidney problems and skeletal deformities. These complications of the disease make difficult for the patient and family to cope with and live normal life.

Fanconi anemia is a genetic condition. That implies you will not be able to lower your chances of acquiring FA. However, if you have a family history of FA, you may consider genetic testing to see whether you are a carrier. Medical problems may not affect everyone who has FA. Similarly, not everyone who has FA passes it on to their offspring. Genetic testing can assist you in gaining a better understanding of your issue.

Please Sign up or Login to do Assessments of Genetic Diseases or Non-Genetic Defects to confirm if you are at risk or not.

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