Description:


Fanconi Anemia is a rare birth defect affecting approximately 1 in 350,000 newborns with higher rates in people of Jewish or South African decent. The disease received its name from the Swiss pediatrician, Guido Fanconi, who was the first to describe the disorder in detail. Fanconi Anemia is a recessive gene disorder that causes bone marrow failure. Since the disease is a recessive gene disorder, the only way to get the disease is if both parents have the defective gene. Testing has found that there are fifteen different genes that are linked to Fanconi Anemia. Research states that 1 in every 181 people have this defective gene. This disease effects both genders but is most often found in ethnic groups.


There is no known cure for Fanconi Anemia at this time but there are some measures those who are affected with the disease can take to extend their lives. Typically those who have Fanconi Anemia go through a bone marrow transplant to help replace the marrow lost from the lack of production on their own. Other treatments include stem cell and steroid hormone therapy. Treating Fanconi Anemia varies from patient to patient because the method of treatment is determined based on the stage of the disease and also the age of the patient. As technology continues to improve, the life expectancy is slowly going up. They have instituted long term treatment methods in order to help increase the quality of life. For example, using Androgen Therapy, doctors are able to increase the production of blood cells. All of these factors are being used to investigate ways to help fight and cure Fanconi Anemia.



Symptoms:

  • Anemia – The most common of all symptoms, constant tiredness, dizziness, headaches and chest pains are all signs of Anemia
  • Birth Defects – Another common symptom shown at birth, most babies with Fanconi anemia have a range of birth defects from skeletal defects to skin discoloration and heart defects.
  • Developmental problems – including
    • o A low birth weight
    • o Delayed growth
    • o Poor appetite
    • o Learning disabilities and mental problems
    • o Small hand size
  • Bone Marrow Failure – Bone marrow fails dude to low red and white blood cell count, can happen at a very early age.
  • Blasts- Blasts are unusual white blood cells that interrupt the bone marrow's production of white blood cells. Having a multitude of blasts can also result in developing acute myeloid leukemia.
  • Adult Symptoms- Adults that find out more later in life that they have FA see more symptoms dealing with their sexual organs and reproductive system.



Related terminology:
Acute myeloid leukemia
Aplastic anemi
Panmyelopathy




Citations/references:

"Fanconi Anemia." Wikipedia. Wikimedia Foundation, 27 Oct. 2014. Web. 28 Oct. 2014.
"Fanconi Anemia." WebMD. WebMD. Web. 28 Oct. 2014.
"What Are the Signs and Symptoms of Fanconi Anemia?" - NHLBI, NIH. Web. 28 Oct. 2014.
"Fanconi Anemia." Healthline. Web. 28 Oct. 2015.
"Fanconi Anemia." Oncology Institute. Web. 28 Oct. 2015.
"Fanconi Anemia." Cincinnati Childrens. Web. 28 Oct. 2015.
"Fanconi Anemia." Dana Farber. Boston Children. Web. 28 Oct. 2015.
Fanconi Anemia Picture



Graphics:


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ethan fisher.jpg
Ethan Fisher, one of many people afflicted with Fanconi Anemia

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