Fanconi's anemia is an inherited disease that primarily affects the bone marrow. It interferes with the production of blood cells and causes the bone marrow to produce defective cells that cause serious health problems, such as leukemia, which is a cancer of the blood. Although the most prominent aspect of Fanconi's disease is blood related, the disease can also affect organs, tissues and physiological systems and increase the risk of developing cancer. The probabilities of its occurrence are the same in both male and female subjects.
Steps
Method 1 of 3: Recognize the Symptoms
Step 1. Look for any congenital anomalies
75% of patients with Fanconi anemia have at least one birth defect, or congenital anomaly. Congenital anomalies are very important clues in the clinical diagnosis of Fanconi's anemia.
- The most common are skin pigmentation, bone and joint malformations, eye and ear defects, reproductive organ problems, kidney and heart defects.
- Other frequent anomalies are described below.
Step 2. Look for any spots caused by skin hyperpigmentation
Coffee and milk-colored skin spots often occur. They may also be lighter (hypopigmentation).
Step 3. Know the most common head and face abnormalities
Abnormalities of the head and face include small or large head, small jaw, bird-shaped head (microcephaly), high and prominent forehead, etc. Some patients have a low hairline and webbed neck.
Step 4. Know the most common head and face abnormalities
Abnormalities of the head and face include small or large head, small jaw, bird-shaped head (microcephaly), high and prominent forehead, etc. Some patients have a low hairline and webbed neck.
Step 5. Look for abnormalities in the spine or vertebrae
Defects of the spine or vertebrae include a curved back, or scoliosis (lateral curvature), abnormal ribs and vertebrae, or the presence of additional vertebrae.
Fanconi's anemia can also be linked to spina bifida, a malformation in which the incomplete closure of one or more vertebrae favors the escape of the spinal cord, the important extracranial portion of the central nervous system
Step 6. Identify any male and female genital defects
Genital defects in men include underdevelopment of all genital organs: small penis, cryptorchidism (failure of one or both testicles to descend into the scrotal sac), opening of the urethra to the lower surface of the penis, phimosis (narrowing of the preputial orifice which leads to uncovering the glans completely and autonomously), small testicles and reduced sperm production leading to infertility.
Defects of the female genitals include an absent, very narrow or undeveloped vagina or uterus and shrunken ovaries
Step 7. Be aware that eye, eyelid and ear deformations can occur
As a result of these defects, those with ALS can have hearing or vision problems.
Step 8. Realize that vital organ problems can arise
Fanconi's anemia very frequently affects the kidneys and heart.
- Kidney problems include the absence of a kidney or a malformed kidney.
- The most common heart defect associated with Fanconi anemia is the interventricular septal defect (DIV) in which abnormal communication occurs between the two lower chambers of the heart.
Step 9. Find out about any development problems
Any type of anemia causes an insufficient supply of oxygen to the various tissues and, consequently, a poor use of the nutrients necessary for normal development. Therefore, in general, the patient is undernourished.
- The baby may be underweight at birth due to insufficient nutrition in the womb.
- The baby is not growing at a normal rate. He often struggles to grow in length and thinner than his peers.
- Poor brain development can result in low IQ or learning difficulties.
Step 10. Look out for classic signs of anemia
When the bone marrow begins to malfunction, production of the three types of blood cells (red blood cells, white blood cells and platelets) is hampered. Anemia is the disease that reduces the number of red blood cells. In anemic individuals the skin is pale, as the red blood cells are responsible for the red color of the blood and, therefore, the pink hue of the skin.
- Fatigue is the main symptom of anemia. It occurs because the supply of oxygen, needed to burn nutrients in cells and to produce energy, is reduced in people with anemia.
- Anemia causes an increase in cardiac output and, therefore, in the blood supply to the tissues in an attempt to compensate for poor oxygenation. This activity can tire the heart and lead to heart failure. As a result, a cough with a frothy sputum develops, wheezing or difficulty breathing especially in a lying position, swelling of the body, etc.
- Other symptoms of anemia are dizziness, headache (due to low oxygen in the brain), cold and clammy skin, etc.
Step 11. Identify the symptoms of reduced white blood cells
White blood cells, or leukocytes, are the body's natural defense system against various infections.
- In the case of bone marrow failure, there is a reduced production of white blood cells and the loss of this natural defense. Infections are likely to develop from microorganisms that people can usually fight off.
- Often, these infections last longer and are difficult to cure. In fact, many patients with Fanconi anemia develop life-threatening secondary infections.
Step 12. Look for symptoms related to low platelets
Platelets are needed for blood clotting. In the absence of platelets, superficial cuts and wounds bleed more.
- It is possible to have bruising or petechiae. Petechiae are small red and purple skin spots caused by bleeding from small vessels that run under the skin. In fact, many people with Fanconi anemia see their doctor for the first time because of this type of skin bleeding.
- If the platelets are critically reduced, spontaneous bleeding from the nose, mouth or digestive tract and joints is possible. It is a serious condition that needs urgent medical attention.
Step 13. Learn about possible complications
Fanconi's anemia is linked to anomalies of various genes (genes are contained in the chromosomes of cells and are responsible for the development of the morphological and functional traits or characters of an organism). For this reason, the genetic anomaly affects the normal growth and tissue differentiation of some organs. In addition to anemia and bone marrow failure, abnormalities can manifest themselves in the form of various complications.
- The abnormal and immature blood cells are produced by the bone marrow and can result in leukemia or myelodysplastic syndromes. About 10% of patients with Fanconi anemia develop leukemia at some point, which in most cases is acute myeloid leukemia. In leukemia, immature cells, or blasts, make up over 30% of the cells in the bone marrow. Myelodysplastic syndrome is a milder form in which blasts within the bone marrow account for 5-20%.
- Fanconi's anemia can also be associated with solid tumors. The most frequent points are liver, oropharynx, esophagus (organic cylindrical shape that allows the passage of food from the mouth to the stomach), vulva, vagina, brain, skin, cervix, breast, kidney, lungs, lymph nodes, stomach and colon. The outlook for cancer patients is poor because they cannot tolerate chemotherapy well (to treat the cancer).
Method 2 of 3: Get a Diagnosis
Step 1. Take a complete blood count (CBC)
The first step in diagnosing Fanconi anemia is to determine if you have aplastic anemia, which involves insufficient production of the three types of blood cells. CBC can detect the number, size and shape of red blood cells.
- In Fanconi's anemia the number of red blood cells is significantly reduced (normal values correspond to 4, 3-5.9 million / mm3 in male adults and 3.5-5.5 million / mm3 in female adults). they usually increase (normal values equate to is 78-98 fL) and many cells may be abnormally shaped.
- Leukocytes and platelet counts are also reduced. This condition is called pancytopenia.
Step 2. Take the reticulocyte count exam
Reticulocytes are the immediate precursors of red blood cells, or erythrocytes. Their percentage in the blood is an indirect indicator of the efficiency with which the bone marrow produces blood cells.
If production occurs at a normal rate, reticulocytes should be 0.5-1.5% of erythrocytes. In the case of aplastic anemia, these values are reduced enormously (almost to zero)
Step 3. Undergo bone marrow aspiration
With this examination it is possible to directly evaluate the activity of the bone marrow. At body temperature, the bone marrow is usually liquid.
- During bone marrow aspiration, a double, wide hollow needle is introduced into the bone after the overlying skin is numbed with an injection of local anesthetic (or under general anesthesia, if the subject is a child or is not cooperating).
- The procedure is still very painful because there is abundant innervation within the bone, in which it is not possible to administer a local anesthetic with normal needles (because they cannot pass through hard bone). Usually the tibia, the upper part of the sternum, or the posterosuperior iliac crest (the upper part of the pelvis) is chosen for the biopsy.
- After introducing the needle to a certain depth, a syringe is attached to the needle that gently extracts a yellowish liquid - the bone marrow - which is then examined to see if the production of red blood cells is sufficient. The pain usually goes away soon after the needle is removed.
Step 4. Undergo a bone marrow biopsy
Sometimes, the marrow can become solid and fibrous during prolonged inactivity. In that case, nothing will come out during needle aspiration - missing liquid is also known as "dry tap". Therefore, a bone marrow biopsy is performed to know the exact condition of the marrow.
- In this case, a small piece of tissue is extracted from the bone marrow using a special hollow needle. The procedure is similar to that of aspiration. A larger gauge needle is introduced and a fragment of bone is extracted as the needle advances through the tissue.
- The fragment of bone tissue enters the needle lumen. Afterwards, the instrument inside which the fragment remains is withdrawn. The tissue is then examined under a microscope.
- The bone marrow examination also provides information regarding the percentage of immature and defective cells. Thus, it is confirmed if there is an excessive amount of blasts that cause leukemia or a myelodysplastic syndrome.
Step 5. Get tested for chromosomal breaks
This is the definitive examination with which Fanconi's anemia is detected. If aplastic anemia has been diagnosed and the clinical picture indicates that there is a possibility of diagnosing Fanconi anemia, then the doctor may recommend this test.
- The examination of chromosomal breaks is a sophisticated test that is performed only in a few centers. It involves the removal of blood cells (from the arm) or skin. These cells are then treated with special chemicals, such as diepoxybutane or mitomycin C.
- Breakages of chromosomes (long chains of genes) are observed inside the cells. In Fanconi's anemia, chromosomes break down and recompose themselves in peculiar forms.
Step 6. Do a flow cytometric analysis (flow cytometry)
This test involves collecting some skin cells and culturing these cells in nitrogen mustard or similar chemicals. Culture is a method in which cells can multiply in an artificial environment.
Cells from patients with Fanconi anemia stop cell division in the G2 / M phase of the cell cycle (the different phases of cell division are known as the cell cycle)
Step 7. Get a diagnosis before delivery
If one or both parents are affected by Fanconi's anemia or there is a risk of heredity of the disease, before the birth of the baby it is recommended to have an analysis of the samples obtained from the mother's womb.
- Amniocentesis is a procedure in which a small amount of fluid from the sac in which the fetus develops is collected by means of a guided needle under ultrasound control. The amniotic fluid cells are then separated and analyzed to detect any genetic defects associated with Fanconi's anemia. This test can be done as early as the 14-18th week of pregnancy.
- Chorionic villus sampling (CVS) is another procedure that can be done in the early stages of pregnancy (at 10-12 weeks). In this case, a thin tube is inserted through the vagina and cervix to the placenta. A tissue sample is then taken by gentle aspiration. The tissue is then analyzed in the same way as for genetic abnormalities.
Method 3 of 3: Understanding Fanconi's Anemia
Step 1. Know what anemia is
Anemia is a disease in which there is a qualitative or quantitative deficiency of hemoglobin or red blood cells. Red blood cells are essential in the transport of both oxygen from the lungs to the various tissues and carbon dioxide from the tissues to the lungs.
- Red blood cells, along with other blood cells (white blood cells and platelets), are produced by the bone marrow, the spongy tissue within long bones, ribs, skull and vertebrae.
- The causes of anemia are various. Aplastic anemia is one of the causes of anemia, which is characterized by the reduction of all types of blood cells due to insufficient bone marrow. Again, there are many causes of aplastic anemia, such as radiation, toxins, drugs, genetic diseases, etc.
Step 2. Know that Fanconi's anemia is a type of aplastic anemia
It is an inherited blood disorder, meaning that the individual is born with this disease. It is transmitted in an autosomal recessive manner.
- To put it in a nutshell, both parents must be sick or carriers of the disease. Being a carrier means that the disease is absent, but half of the genes responsible are affected.
- In Fanconi's anemia, the bone marrow cannot produce enough new blood cells. There is also the production of many defective cells which can lead to the development of leukemia or blood cancers.
Step 3. Realize that patients with Fanconi anemia have a higher risk of developing leukemia or cancer
In fact, one in ten people with Fanconi's anemia develop leukemia. There is also a danger of other types of solid tumors developing in other parts of the body. The most common points are mouth, tongue, throat, female reproductive organs, liver, etc.
Step 4. Also understand that Fanconi's anemia can be difficult to diagnose
Since the causes of anemia are varied, the diagnosis of this disease is often difficult. Although it is primarily a blood cell disorder, other organs in the body are also affected.
- Therefore, congenital anomalies are very important clues in the diagnosis of Fanconi anemia. 75% of the subjects come to the way with congenital anomalies.
- The remaining 25% of patients are diagnosed with this anemia by genetic testing when they begin to show symptoms of bone marrow failure (usually between the ages of 2 and 13).
- Therefore, a careful medical history, physical examination, and clinical investigations are all important factors in diagnosing this rare blood disorder.
