Content

• Steps
• Warning

Fanconi anemia is an inherited disease in the bone marrow - the soft tissue inside the bone that is capable of producing blood cells - is damaged. This damage affects the production of blood cells and causes serious health problems such as leukemia (a type of blood cancer). Although Fanconi anemia is a blood-related disorder, it also affects other organs, tissues, and systems in the body, increasing the risk of developing cancer. The disease is usually diagnosed before the age of 12 but can also be detected during pregnancy, even before birth.

Steps

Method 1 of 3: Recognize signs before or during childbirth

1. 

   Learn family genetic history. Fanconi anemia is a genetic disease, so if someone in your family has a history of anemia, you may have a gene and become infected. Fanconi anemia is caused by a recessive gene, that is, both parents must carry genes and transmit them to their children. Because it is a recessive disease, both parents can carry the gene without getting sick.

2. 

   
   
   Get genetic testing. If you are unsure whether or not you have the Fanconi anemia gene, you can have a genetic specialist run many tests. If neither parent is a carrier, the child cannot carry the Fanconi anemia gene. However, if both parents are carriers, only a quarter of the children will develop Fanconi anemia.
   • The most common test is the genetic mutation test. The geneticist will take a skin sample and observe a mutation (abnormal change in genes) associated with Fanconi anemia.
   • A chromosomal breakdown test is a process that takes blood samples from the arm and uses special chemicals to process the cells. The cells are then observed to see if they break down. If you have Fanconi anemia, your chromosomes break down and rearrange more easily than usual. This test is the only way to determine if you carry the Fanconi anemia gene. This is a complicated test and can only be performed by a few centers.

3. 

   
   
   Gene testing in the fetus. There are two tests for the developing fetus: a placenta biopsy (CVS) and an amniocentesis. Both of these tests are performed in a hospital.
   • A placenta biopsy is done 10-12 weeks after a pregnant woman's last menstrual period. Your doctor will insert a thin tube through your vagina and cervix to the placenta. Then, the doctor will gently suck to take a sample of tissue from the placenta and conduct laboratory tests to detect genetic defects.
   • Amniocentesis is performed 15-18 weeks after the woman's last menstrual period. The doctor uses a needle to remove a small amount of fluid from the pouches around the fetus. The technician then checks the chromosomes from the liquid sample for the defective gene.

4. 

   
   
   Recognize the symptoms of Fanconi anemia. After your baby is born, check for physical defects that may be a sign of Fanconi anemia. Some disabilities can be examined on your own, while others will need a doctor.
   • Fanconi anemia causes loss of thumb, thumb deformity or more than 3 thumbs. The bones of the arms, hips, legs, hands, and toes are not fully formed or abnormally formed. Children with Fanconi anemia may have a scoliosis or a curved spine.
   • Eyes, eyelids, and ears can also be deformed. Children with Fanconi anemia can become deaf.
   • About 75% of patients with Fanconi anemia carry at least one birth defect.
   • Young children with Fanconi anemia can have a kidney defect or an abnormal kidney.
   • Fanconi anemia can cause congenital heart defects. The most common is ventricular septal defect (ventricular septal defect), which is the appearance of a hole or defect in the lower septum to prevent the left and right ventricles.
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Method 2 of 3: Recognize the signs of illness in childhood or later

1. 

   Look for patches of skin pigmentation. The patient will see flat, light brown patches called "cafe au lait" (in French, "milk coffee"). Or the patient's skin may appear lighter patches (loss of pigmentation).

2. 

   Look for head and face abnormalities. These abnormalities may include a small or large head, small lower jaw, small face (shaped like a bird's face), sloping or dull forehead, etc. Some patients also have low hairline and membrane in the neck.
   • The eye, eyelids, and ears of an infected person may be deformed. These defects can cause vision and hearing problems for people with Fanconi anemia.

3. 

   Look for bone defects. The thumb can be lost or deformed. Arms, forearms, thighs, and legs can be short, arched or deformed. The hands and feet can carry an abnormal number of bones and in some cases up to 6 fingers.
   • The spine and vertebrae are common locations for bone defects. Defects can be spinal curvature (scoliosis), abnormal ribs and spine, with additional vertebrae.

4. 

   
   
   Recognize genital defects in both men and women. Since men and women have different genital systems, it's important to be aware of the different signs.
   • Genital defects in men include underdevelopment of all genitals, small penis, hidden testicles, open urethra on the lower face of the penis, foreskin stenosis (tension abnormality of the foreskin, prevent shrinkage of the foreskin), small testicles, decrease sperm production leading to infertility.
   • Genital defects in women include no vagina or uterus, vagina or uterus very narrow or not growing, and ovarian shrinkage.

5. 

   
   
   Be aware of other developmental abnormalities. Babies born can be underweight due to lack of nutrition from the mother's womb. Children may not be developing at a normal, low or smaller rate than their peers. Any form of anemia leads to an inadequate supply of oxygen to the various tissues, so the patient often suffers from malnutrition. The brain is also underdeveloped, for example a low IQ or difficulty in learning.

6. 

   
   
   Beware of the basic signs of anemia. Fanconi anemia is a type of anemia that has the same symptoms as many other diseases. People with these diseases are not necessarily caused by Fanconi anemia but it could be one of the reasons.
   • Fatigue is the main symptom of anemia. Patients feel tired because the supply of oxygen (needed to burn nutrients in the cells and produce energy) is reduced.
   • Anemia is also linked to a decrease in red blood cells (RBC). The skin of a patient can turn pale because the RBC is responsible for the red color in the blood, which in turn gives the skin a pink color.
   • Anemia causes an increase in the supply of blood from the heart, or an increase in blood supply to other tissues to compensate for the lack of oxygen. This can tire the heart and lead to heart failure. With heart failure, babies often cough up foamy sputum, shortness of breath (especially while lying down) or swollen body.
   • Other symptoms of anemia include dizziness, headache (due to lack of oxygen to the brain), cold and pale skin.

7. 

   Identify signs of a leukopenia. White blood cells (WBC) create the body's natural defense against many infections. When the bone marrow is defective, the amount of white blood cells produced decreases and the body's natural protective wall is lost. Children will be more susceptible to infections caused by organisms that the normal human body can resist. Infection is usually longer and is more difficult to treat.
   • Children diagnosed with cancer at an early age should be screened for Fanconi anemia.

8. 

   Be careful with signs of thrombocytopenia. Platelets are essential for blood clotting. If there is a lack of platelets, small cuts and wounds will bleed longer. Children are also prone to bruising or petechiae on the skin. Small red or purple spots on the skin are caused by blood flowing from small blood vessels under the skin.
   • If the platelets drop significantly, blood can flow out of itself from the nose, mouth or digestive tract and in the joints. This is a serious problem and requires urgent medical attention.
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Method 3 of 3: Reception of diagnosis

1. 

   Talk to your doctor. The above signs are just symptoms that suggest you may have Fanconi anemia. The new doctor is the only one capable of performing a test to confirm a diagnosis. Before the test, you need to tell your doctor about all conditions (if any) that could affect the test. Information on family history, medication use, recent blood transfusions (if applicable) should be provided and other illnesses.

2. 

   Get tested for anemia that does not regenerate. Fanconi anemia is anemia that does not regenerate, in which the bone marrow is damaged and does not produce enough blood cells. For the test, the doctor will use a needle to take a blood sample from the arm. The blood sample will be analyzed under a microscope for either a complete blood test (CBC) or reticulocyte count.
   • In the CBC test, the blood sample is smeared on a slide and examined under a microscope. The doctor then calculates the number of cells to ensure adequate numbers of red blood cells, white blood cells, and platelets. To identify non-regenerating anemia, your doctor will look at red blood cells to see if the number of cells has decreased significantly, the size has increased, and if there are many cells that are abnormally shaped.
   • During the reticulocyte count, the doctor observes the blood sample with a microscope and counts the reticulocyte count. These are direct precursors of red blood cells. The percentage of reticulocytes in the blood shows how efficiently the bone marrow produces blood cells. If the patient has anemia that does not regenerate, the percentage will drop significantly, close to zero.

3. 

   Receive flow cytology assay. The doctor takes some cells from the skin and grows them in a chemical medium. If the Fanconi anemia gene is carried, the cell sample will stop growing at an abnormal stage that can be seen by the examiner.

4. 

   Get a marrow test. During this test, some bone marrow is extracted for a live test. After applying a topical anesthetic, your doctor will insert a thick, large metal needle into the bone, usually the shin bone, the upper part of the sternum, or the pelvis.
   • If the patient is a small child or the patient is difficult to control, the doctor can use anesthetic to sleep the patient and perform bone marrow aspiration.
   • Even with anesthesia, the patient will still feel quite pain. There are so many nerves inside the bone that local anesthetic cannot be injected with a normal needle.
   • After inserting the needle into a certain depth, the doctor attaches the syringe to the needle and pulls the plunger out slightly. Gold fluid that is extracted is bone marrow. Gold fluid will be tested to see if enough blood cells are produced. Pain usually goes away immediately after needle removal.
   • Occasionally, the marrow can become hardened and fibrous due to long periods of inactivity. In that case, the yellow fluid will not be sucked out and is called a "dry tap".

5. 

   Receive a bone marrow biopsy. In the case of a "dry tap", the doctor will recommend a bone marrow biopsy to check the correct condition of the marrow. The procedure is similar to a bone marrow examination, but uses a larger needle and removes a piece of bone marrow tissue. Bone marrow tissue will be examined with a microscope to check the percentage of damaged cells. advertisement

Warning

• Fanconi anemia is not confused with Fanconi Syndrome - a kidney disorder.
• Be aware that Fanconi anemia can be very difficult to diagnose. Since there are many other causes that can lead to anemia, it is often difficult to diagnose Fanconi anemia. Although it is a blood cell disease, it also affects many other organs in the body and can cause more prominent symptoms.
• Fanconi anemia is associated with many other conditions and diseases. If you are diagnosed with Fanconi anemia, you may have many other illnesses like leukemia, other cancers, kidney disease and heart defects.
• A bone marrow transplant can help treat Fanconi anemia. This is a common treatment for non-renewable anemia. However, the preparation process for a patient with Fanconi anemia is different from other non-renewable anemia. Patients with Fanconi anemia require different chemotherapy and radiation therapy than patients with other non-renewable anemia. Therefore, this treatment should be used with caution.