What is Fanconi Anemia?

Q:
What is Fanconi anemia?

A:
Fanconi anemia (FA) is a recessive genetic disorder that leads to bone marrow failure. The function of your bone marrow is to making red blood cells, white blood cells and platelets. If it cannot replace dead blood cells, you will develop bone marrow failure.

This condition is very serious and has lifelong complications, including:

  • Anemia
  • Birth defects
  • Cancer (About 10 percent of people with FA have leukemia)

Symptoms:

Symptoms of Fanconi anemia include:

  • Aplastic anemia:

Dizziness

Headaches

Inability to keep hands and feet warm

  • Birth defects:

The following symptoms may suggest your children have FA:

Bone defects, especially involving the thumbs and arms

Eye and ear defects

Skin discoloration

Kidney problems

Congenital heart defects

  • Developmental problems:

low birth weight

poor appetite

delayed growth

a smaller-than-normal height

a smaller-than-normal head size

intellectual disability

  • Symptoms in adults:

Different from infants with FA, adults with FA usually have problems with their sexual organs or the reproductive system. These symptoms involve:

periods that occur later than normal

fertility issues

frequent miscarriages

early menopause

smaller-than-normal genitals

Causes:

Because FA is a recessive gene disorder, it occurs when two people with the defected gene have a child.

Treatment:

Although there is no cure available for Fanconi anemia, patients can treat their symptoms with appropriate treatment options based on different individual conditions. Short-term and long-term treatment strategies are always considered.

People with Fanconi anemia tend to have a low life expectancy. However, there are some methods that can increase the chance of a longer life and improve life quality. If you need any help, you can visit a doctor or support groups for professional advice.

Keywords: Fanconi anemia; genetic disorder; bone marrow

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