Fanconi Anemia: Definition, Symptoms & Treatment

Instructor: Artem Cheprasov
This lesson defines a rare disorder known as Fanconi anemia. In this lesson you're going to learn about many of its different kinds of signs, symptoms, and treatments.

Fanconi Anemia

Although this lesson's main term sound mysterious and difficult, you're going to find it easy to understand many of its important aspects. Fanconi anemia is a rare, inherited, and autosomal recessive disorder that affects many parts of a person's body, especially their bone marrow. Don't get this condition confused with a kidney disorder called Fanconi syndrome, however.

Let's find out what the signs, symptoms, and treatments are for Fanconi anemia.

Signs & Symptoms

The bone marrow, which is located basically in the middle of many of your bones, produces numerous important things. These include:

  • Red blood cells, which carry oxygenated blood to your tissues so they can work to the best of their ability.
  • White blood cells, which defend you against infectious organisms like bacteria.
  • Platelets, which are cell-like components of blood that help your blood clot.

Now, most people with Fanconi anemia will be unable to produce adequate amounts of all three of these blood cells. So what do you think, based on what you just learned, would be some of the signs and symptoms of Fanconi anemia as a result?

If you said a lack of red blood cells might lead to fatigue, you're right! If your tissues don't get enough oxygen, they can't work to the best of their ability, so you'll tire out more quickly.

If you said a lack of white blood cells may predispose a person to infections, you're right again! This is because there aren't enough white blood cells to defend you from the daily onslaught of viruses, bacteria, fungi, and parasites out there in the environment.

If you said a person with Fanconi anemia will be at increased risk of bleeding, you're a genius! This is because if there aren't enough platelets, it's much harder for your blood to clot, even as a result of a small scrape.

So, fatigue, frequent infections, and a propensity to bleed easily are three of the signs and symptoms of Fanconi anemia.

Other signs and symptoms of Fanconi anemia include:

  • Physical abnormalities. This can include things like unusually light skin in some areas, malformed thumbs, a short height, abnormal kidneys, deafness, oddly shaped eyes, and an unusually small head.
  • An increased risk of developing some forms of cancer, like acute myeloid leukemia. This is a cancer of the blood-forming cell of the bone marrow.

Treatment

So, how do you think some of the signs and symptoms of Fanconi anemia can be treated? Again, solely based on what you know already you can answer the question yourself.

You know that a person with Fanconi anemia is possibly missing a lot of blood cells. So, if you said we either give blood cells to the patient or try to get their body to produce more on their own, you're correct! In the former case, we can give blood transfusions to correct for blood cell deficits. In the latter case, we can give the person hormones, growth factors, or try bone marrow transplants to get the patient's body to produce adequate amounts of blood cells on its own.

Medication may need to be used as well to treat the consequences of Fanconi anemia. For example, if a person has a bacterial infection due to a low blood cell count, then antibiotics may be used. Antibiotics are drugs that kill or inhibit the growth of bacteria.

Physical abnormalities may need surgical correction. For instance, hand surgery and splinting can be used to correct thumb abnormalities. The various cancer growths that people with Fanconi anemia are predisposed to may need to be surgically removed as well.

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