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How to Diagnose Fanconi Anemia

Three Methods:Looking for Signs Before or At BirthLooking for Signs During Childhood or LaterGetting a DiagnosisCommunity Q&A

Fanconi anemia (FA) is an inherited disease that arises from damaged bone marrow, the squishy tissue inside your bones that produces blood cells. This damage interferes with the production of blood cells, and can cause serious health problems like leukemia, a type of blood cancer. Although Fanconi anemia is blood related disorder, it can also affect the body's organs, tissues, and systems and increase a person's risk of developing cancer. The disease is usually diagnosed before the age of 12, though it can be detected during infancy, and even before birth.

Looking for Signs Before or At Birth

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    Know your family's genetic history. Fanconi anemia is a genetic disease, so if someone in your family has a history of anemia, you may have the gene. Fanconi anemia is carried by a recessive gene, meaning both parents must have the gene and pass it on to their child for a person to get the condition. Because it's a recessive gene, both parents may be carriers and not have the disease.
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    Get tested for the gene. If you are not sure whether you carry the gene for Fanconi anemia, there are several tests you can have done with a geneticist. If neither parent carries the gene, then their children cannot get Fanconi anemia. Even if both parents have the gene, there is still only a one in four chance the child will get Fanconi anemia.[1]
    • The most common test is a genetic mutation test. A geneticist will take a sample of skin, and look for mutations (abnormal changes in your genes) that are tied to Fanconi anemia.
    • A chromosome breakage test involves having blood drawn from the arm, and treating the cells with special chemicals. Those cells are then observed to see if they break apart. In Fanconi anemia chromosomes will break and rearrange more easily than normal people. This test is the only sure way to determine if someone has the gene for FA. It is a sophisticated test and can only be done at a few centers.[2]
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    Test a fetus for the gene. There are two tests for a developing fetus: chorionic villus sampling (CVS) and amniocentesis. Both tests are done in a doctor's office or hospital.[3]
    • CVS is done 10 to 12 weeks after a pregnant woman's last period. The doctor inserts a thin tube through the vagina and cervix to the placenta. She will remove a tissue sample from the placenta using gentle suction. A lab then tests the sample for genetic defects.
    • Amniocentesis is done 15 to 18 weeks after a pregnant woman's last period. The doctor will take small amount of fluid from the sac around the fetus with a needle. A technician will then test chromosomes from the sample to see whether they have the faulty genes.
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    Look for the symptoms of Fanconi anemia. After the child is born, you will want check for certain physical defects that indicate Fanconi anemia. Some of these you will be able to see yourself, while others will require a doctor to check.[4]
    • FA can cause missing, oddly shaped, or three or more thumbs. Arm bones, hips, legs, hands, and toes may not form fully or normally. People who have FA may have scoliosis, or a curved spine.
    • About 75% of patients with Fanconi anemia have at least one birth defect.
    • A child who has FA might be missing a kidney or have kidneys that aren't shaped normally.
    • FA can also cause congenital heart defects. The most common is a ventricular septal defect (VSD), a hole or defect in the lower part of the wall that separates the heart’s left and right chambers.

Looking for Signs During Childhood or Later

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    Look for patches of pigmented skin. You will want to find flat patches of light brown skin, called "café au lait" (French for "coffee with milk") spots. There may also be patches of lighter skin (hypo-pigmentation).
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    Look for common head and face abnormalities. These include a small or large head, small lower jaw, bird-like face, sloped, prominent forehead etc. Some patients have low hairline and webbed neck.
    • You may also find deformed eyes, eyelids, and ears. As a result of these defects, the FA sufferer may have problems with his hearing or sight.
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    Look for skeletal defects. The thumb may be missing or deformed. Arms, forearms, thighs, and legs may be short, curved, or abnormally shaped. Hands and feet may have an abnormal number of bones, and some patients will have six fingers.
    • The spine and vertebrae are common sites for skeleton defects. These include a curved spine, known as scoliosis, abnormal ribs and vertebrae, or extra vertebra.
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    Look for genital defects in both males and females. Of course, since males and females have different genital systems, you will have to look for different signs.
    • Male genital defects can include underdevelopment of all genital organs, small penis, undescended testes, opening of urethra on the lower surface of penis, phimosis (abnormal tightness of the foreskin preventing retraction over the glans), small testes, and reduced production of sperm leading to infertility.
    • Female genital defects include absent, very narrow, or rudimentary vagina or uterus and shrinkage of the ovaries.
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    Look for additional developmental problems. A baby may have low birth weight due to insufficient nutrition in the mother’s womb. The child may not grow at a normal rate, and be shorter and thinner than children of same age. Any kind of anemia leads to inadequate oxygen supply to various tissues, meaning the patient will be undernourished in general. Poor brain development may mean a low IQ or learning difficulties.
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    Watch out for the classic signs of anemia. Fanconi anemia is a type of anemia, so it will share many symptoms of other forms of the disease. Suffering from these does not necessarily mean Fanconi anemia is the cause, but it is a possibility.
    • Fatigue is the main symptom of anemia. It occurs because the supply of oxygen, which is needed to burn nutrients in the cells and produce energy, is reduced.
    • Anemia also involves having reduced red blood cells (RBCs). Your skin will become pale in anemia because RBCs are responsible for the red color of the blood and thereby the pink hue of the skin.
    • Anemia causes increased cardiac output and thus blood supply to tissues in an attempt to compensate poor oxygenation. This may tire the heart and lead to heart failure. In this condition, the child will develop a cough with frothy mucus, shortness of breath (particularly while lying down), or swelling of the body.
    • Other symptoms of anemia include dizziness, headache (due to poor oxygen in the brain), and cold and clammy skin.
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    Identify signs of reduced white blood cells. White blood cells (WBCs) form the natural defense system of the body against various infections. When bone marrow fails, there will be reduced WBC production and loss of this natural defense. The child will easily develop infections from organisms that normal people can resist. These infections often last longer, and are difficult to treat.
    • Children who are diagnosed with cancer at an early age should be screened for Fanconi anemia.
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    Watch out for signs of reduced platelets. Platelets are needed for clotting of blood. In platelet deficiency, small cuts and wounds will bleed longer. The child also may bruise easily or have petechiae. These small red or purple spots on the skin are the result of bleeding from small vessels running under the skin.[5]
    • If platelets are critically reduced, there may be spontaneous bleeding from the nose, mouth or digestive tract and in the joints. This is a serious condition that needs urgent medical attention.

Getting a Diagnosis

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    Talk to a doctor. These signs are only symptoms, suggesting a person may have Fanconi anemia. Only a doctor will be able to arrange for a test to actually determine if that person has the disease. Before taking any test, the doctor should know of any other conditions that might affect it. That includes family history, medication, recent blood transfusions, or other diseases.
  2. 2
    Get tested for aplastic anemia. Fanconi anemia is a type of aplastic anemia, which means the bone marrow is damaged and not producing blood cells properly. To test, the doctor will use a need to draw blood, usually from the arm. That blood will then be analyzed under a microscope, to either do a complete blood count (CBC), or a reticulocyte count.
    • In a CBC, a sample of the blood will be smeared onto a slide and viewed under a microscope. A doctor will then count the number of cells, and make sure there are proper amounts of red blood cells, white blood cells, and platelets. For aplastic anemia, the doctor will be looking at the red blood cells to see if their number is greatly reduced, their size increased, and if there are many abnormally shaped cells.
    • In a reticulocyte count, the doctor will view the blood under a microscope and count the Reticulocytes. These are immediate precursors of RBCs. Their percentage in the blood is can suggest how well bone marrow is producing blood cells. In aplastic anemia this value will be greatly reduced, almost near zero.
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    Agree to a cytometric flow test. The doctor will take a few cells from the skin and artificially growing those cells in a chemical environment. If the sample has FA, the culture will stop growing at an abnormal phase, which the tester will see.
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    Undergo bone marrow aspiration. This test draws out some of your bone marrow so it can be directly tested. After numbing the skin with a local anesthesia, the doctor will stick a thick and wide metallic needle into to a bone, usually the shin bone, the upper part of breastbone, or the hipbone.
    • If the subject is a child or non-cooperative, the doctor may use a general anesthesia to put them to sleep for the needle.
    • Even with anesthesia, the procedure is still quite painful. There many nerves inside the bone where a local anesthetic cannot be given with ordinary needles.
    • After inserting the needle to a certain depth, a syringe is attached to the needle and plunger is gently pulled. The yellowish liquid that comes out is bone marrow. The liquid is then tested to see if enough blood cells are being produced. The pain will usually go away soon after withdrawal of the needle.
    • Sometimes, the marrow may become solid and fibrous during prolonged inactivity. In that case, nothing will come out during needle aspiration, which is called a "dry tap."
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    Have a bone marrow biopsy. If the patient has a "dry tap," the doctor will probably then do a bone marrow biopsy to see the exact condition of the marrow. The procedure is similar to the aspiration, this time using a wider needle, and cutting out a piece of bone marrow tissue. The tissue is then examined under microscope to test the percentage of damaged cells.

Community Q&A

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  • Don't confuse Fanconi anemia with Fanconi Syndrome, which is a kidney disorder.
  • Be aware that FA can be difficult to diagnose. As there are many other causes of anemia, diagnosis of this disorder is often difficult. Although it is primarily a disease of blood cells, it affects various other body organs, and these may show the symptoms more prominently.
  • Fanconi anemia is tied to a number of other conditions and diseases. Even if you can diagnose Fanconi anemia, there may be a number of other conditions that will result, including leukemia and other cancers, kidney disease, and heart defects.
  • One possible cure for FA is a bone marrow transplant. Though this is a common treatment for aplastic anemia, the preparation of a patient with FA is very different than other aplastic anemia conditions. FA patients also handle chemotherapy and radiotherapy differently, so those treatments must be used with caution.

Article Info

Categories: Health Care and Medical Information

In other languages:

Italiano: Diagnosticare l'Anemia di Fanconi, Русский: диагностировать анемию Фанкони, Português: Diagnosticar Anemia de Fanconi, Español: diagnosticar anemia de Fanconi, Deutsch: Fanconi Anämie diagnostizieren, Français: diagnostiquer l'anémie de Fanconi


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