A diagnosis of Fanconi Anemia.

Fanconi anemia is caused by damaged bone marrow, the squishy tissue inside your bones that produces blood cells.Leukemia, a type of blood cancer, can be caused by this damage, and can lead to serious health problems.Fanconi anemia is a blood related disorder that can affect the body's organs, tissues, and systems, as well as increase the risk of cancer.The disease can be detected during infancy and even before birth, though it is usually diagnosed before the age of 12.

Step 1: Know the history of your family's genetics.

If someone in your family has a history of Fanconi anemia, you may have the gene.Fanconi anemia is a condition that can be passed on from parent to child if both parents have the same gene.Both parents may not have the disease because they are carriers.

Step 2: You should get tested for the gene.

There are a number of tests you can have done with a geneticist if you don't know whether you have Fanconi anemia.Children can't get Fanconi anemia if neither parent carries the gene.There is only a one in four chance that the child will get Fanconi anemia if both parents have the gene.The most common test is a genetic test.A geneticist will take a sample of your skin and look for abnormal changes in your genes.Blood is drawn from the arm and the cells are treated with special chemicals.The cells are observed to see if they break apart.The chromosomes will break and rearrange more easily in Fanconi anemia.The only sure way to determine if someone has the FA gene is with this test.The test can only be done at a few centers.

Step 3: The fetus should be tested for the genes.

Chorionic villus sampling and amniocentesis are two tests for a developing fetus.The tests are done in a hospital or doctor's office.A pregnant woman's last period is 10 to 12 weeks.The doctor inserts a tube into the vagina.She will remove a sample from the uterus.The sample is tested for genetic defects.After a pregnant woman's last period, aniocentesis is done.The doctor will take a small amount of fluid from the fetus with a needle.A technician will look at the chromosomes to see if they have faulty genes.

Step 4: The symptoms of Fanconi anemia are listed.

You will want to check for certain physical defects after the child is born.Some of them will allow you to see yourself, while others will require a doctor's visit.FA can cause missing, oddly shaped, or three or more thumbs.Arm bones, hips, hands, and toes may not be fully formed.Scoliosis or a curved spine can be found in people with FA.It is possible that the eyes, eyelids, and ears do not have a normal shape.Children with FA might be born with deafness.Most of the patients with Fanconi anemia have at least one birth defect.There is a chance that a child with FA has missing organs.Congenital heart defects can be caused by FA.A ventricular septal defect is a hole in the wall that separates the left and right chambers.

Step 5: Patches of skin.

Flat patches of light brown skin are called "café Au lait".There are patches of lighter skin.

Step 6: Common head and face abnormality is what to look for.

These include a small or large head, small lower jaw, bird-like face, sloped forehead, etc.Some patients have a low neck.The eyes, eyelids, and ears are not normal.FA sufferers may have problems with their hearing or sight as a result of these defects.

Step 7: Skeletal defects can be found.

The thumb may be missing.Arms, forearms, thighs, and legs are not always straight.Some patients have six fingers, while others have an abnormal number of bones.The spine is a common site for skeleton defects.These include a curved spine, abnormal ribs, and extra vertebra.

Step 8: Male and female genital defects can be seen.

Since males and females have different genital systems, you will have to look for different signs.Male genital defects can include under development of all genital organs, small penis, undescended testes, and phimosis.Female genital defects include absent, very narrow, or rudimentary vagina or uterus.

Step 9: There are additional developmental problems to look for.

A baby may have low birth weight due to insufficient nutrition in the mother's womb.The child may be shorter and thinner than the children of the same age.Anemia can lead to insufficient oxygen supply to various tissues, meaning the patient will be under nourished in general.A low IQ or learning difficulties can be caused by poor brain development.

Step 10: The signs of anemia can be seen in classic signs.

The symptoms of Fanconi anemia are similar to those of other forms of the disease.Fanconi anemia is a possibility if you suffer from these.The main symptom of anemia is fatigue.It happens because the supply of oxygen is reduced.Reducing red blood cells is anemia.The pink hue of the skin is caused by the red blood cells.Blood supply to tissues is affected byemia because it causes increased cardiac output.This could lead to heart failure.In this condition, the child will have a cough with frothy mucus, and sometimes a swelling of the body.Cold and clammy skin, dizziness, headaches, and poor oxygen in the brain are some of the symptoms of anemia.

Step 11: There are signs of reduced white blood cells.

White blood cells form the natural defense system of the body.This natural defense will be lost when bone marrow fails.The child can get infections from organisms that people can't resist.These infections are difficult to treat.Children who are diagnosed with cancer at an early age should be screened for Fanconi anemia.

Step 12: If you see signs of reduced platelets, be careful.

Platelets are needed to clot blood.Small cuts and wounds will bleed longer in platelet deficiency.The child can bruise easily and have petechiae.There are small red or purple spots on the skin caused by bleeding from small vessels.There may be bleeding from the nose, mouth, and joints if platelets are critically reduced.This is a serious condition that requires immediate medical attention.

Step 13: Talk to the doctor.

There are signs that a person may have Fanconi anemia.Only a doctor can arrange for a test to determine if a person has the disease.The doctor should be aware of any other conditions that might affect the test.Family history, medication, recent blood transfusions, and other diseases are included.

Step 14: If you have aplastic anemia, get tested.

Fanconi anemia is a type of aplastic anemia, which means the bone marrow is damaged and not producing blood cells properly.The doctor will need to draw blood from the arm to test.The blood will be analyzed under a microscope, either a complete blood count or a reticulocyte count.A sample of blood will be smeared onto a slide and viewed under a microscope.A doctor will count the number of cells and make sure there are enough red, white, and platelets.The doctor will look at the red blood cells to see if there are any changes to their shape or number.The doctor will look at the blood under a microscope and count the Reticulocytes.These are the start of the process.How well bone marrow is producing blood cells can be inferred from their percentage in the blood.This value will be almost zero in aplastic anemia.

Step 15: Agree to have a flow test.

The doctor will take a few cells from the skin and grow them in a chemical environment.The culture will stop growing at an abnormal phase if the sample has FA.

Step 16: A bone marrow aspiration is done.

Your bone marrow can be directly tested with this test.The doctor will stick a metallic needle into a bone after numbing the skin with a local anesthesia.If the subject is a child or non-cooperative, the doctor may use a general anesthesia to put them to sleep.The procedure is still painful even with anesthesia.Local anesthetic can't be given with ordinary needles because of the nerves inside the bone.After the needle is inserted, a syringe is attached to it and the plunger is pulled.The liquid that comes out is bone marrow.If enough blood cells are being produced, the liquid is tested.After the withdrawal of the needle, the pain will usually go away.During long periods of inactiveness, the marrow may become solid.During a "dry tap", nothing will come out during needle aspiration.

Step 17: A bone marrow biopsy is necessary.

If the patient has a dry tap, the doctor will probably do a bone marrow biopsy to see the exact condition of the marrow.The procedure is similar to the aspiration, using a wider needle and cutting a piece of bone marrow tissue.To test the percentage of damaged cells, the tissue is examined under a microscope.