Fanconi anemia (not to be confused with Fanconi syndrome, which is a kidney problem) is a very rare hereditary disease that mainly affects the bone marrow. It consists of generating a significant decrease in the production of blood cells. It is also known as constitutional aplastic anemia, congenital pancytopenia or aplastic anemia associated with congenital malformations.
Causes of Fanconi anemia
damaged gene
The cause of Fanconi anemia lies in an abnormal gene that damages cells and prevents them from repairing damaged DNA. This disease is transmitted from parents to children, but to inherit it it is necessary to receive a copy of the abnormal gene from each parent. Its existence is usually discovered in childhood.
Symptoms of Fanconi anemia
Skin spots, deafness and others
Patients with Fanconi anemia have a level of white blood cells, red blood cells and platelets (cells that help blood clot) below what is considered normal.
– The normal red blood cell count is 4.5 to 6 million per cubic millimeter for men and 4 to 5.5 million per cubic millimeter for women.
– The total white blood cell count (neutrophils, eosinophils, basophils, lymphocytes and monocytes) is 5,000 to 10,000 per cubic millimeter of blood.
– Normal blood platelet numbers are 150,000 to 450,000 per cubic millimeter of blood.
The absence of red blood cells causes anemia and a feeling of tiredness, while the decrease in white blood cells facilitates infections. The lack of platelets causes bleeding.
The most recognizable signs that patients with Fanconi anemia present are these:
– Spots on the skin.
– Deafness.
– Some organs such as the heart, kidneys and lungs have abnormal sizes.
– Abnormal bones, especially in the hips and spine area and also in the hands.
– Smaller head than usual standard.
– Small testicles.
– Weight and height below average at birth.
Diagnosis of Fanconi anemia
Diversity of analysis
The doctor has several test options to confirm the diagnosis:
– Bone marrow biopsy.
– Blood test.
– Development test.
– Magnetic resonance and tomography.
– X-rays.
– Audiometry.
– Ultrasound of the kidneys.
Fanconi anemia treatment and medication
Treatment depends on the level of involvement
Many patients with a moderate decrease in blood cells and platelets do not need transfusions and only need regular check-ups. Tests will have to be carried out frequently to rule out the appearance of some types of cancer such as leukemia, neck or head cancer.
The doctor may prescribe erythropoietin which will increase the number of blood cells, but only temporarily. A possible longer-lasting solution is bone marrow transplant. If there is no donor, hormone therapy is used along with the administration of steroids.
The survival rates for this disease depend on each case. The progression of the disease can be very rapid in the case of people with very low levels of blood cells and platelets. In addition, patients with Fanconi anemia are more likely to have cancer (leukemia, cancer of the neck, head or urinary system).
Prevention of Fanconi anemia
Genetic study
The genetic study allows us to find out if a person is a carrier of the gene that causes Fanconi anemia. This is important when planning to have offspring.
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