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Fanconi anemia: symptoms and treatment

by Alivia Nyhan
Published: Last Updated on

Anemia is a disease that currently has a reasonably high incidence. There are many types of anemia. Some are more serious than others; however, in most cases, they can be easily controlled with the correct medication, allowing the affected person to lead an everyday life. However, some others are pretty serious, such as Fanconi anemia, which has the characteristic of being hereditary, and therefore those affected will suffer from it from birth. When this disease is overlooked or is not given the importance it deserves, there can be essential consequences that lead to premature death in a young person, so in this FastlyHealarticle, we will explain everything about Fanconi anemia: symptoms and treatment.

What is Fanconi anemia?

Fanconi anemia is a hereditary disease characterized by affecting multiple organs. Still, always the affected tissue is the bone marrow, which is the tissue responsible for producing the cells that are transported in the blood, that is, red blood cells. Whites and platelets. By affecting this, patients often have problems related to their deficiency, such as anemia, infections, and bleeding.

While it is a relatively rare disease, its consequences can be pretty serious because it has been shown that Fanconi anemia causes those affected to be more likely to suffer from many types of cancer, among which stands out leukemia, which mainly affects the bone marrow.

Causes of Fanconi anemia

Fanconi anemia is a disease characterized by being hereditary; that is, the affected person is born with it and, therefore, it is mainly a childhood disease. The genes of this disease are of the recessive type, which means that both parents of the baby must carry a copy of the disease gene to transmit it to their children, who will have a 50% probability of suffering from the disease, a 25% of being carriers and 25% of not inheriting the disease gene.

When a person possesses both copies of the gene and develops the disease, it compromises the formation of specific proteins that participate in the DNA repair processes, the life cycle and cell death, oxygen metabolism, and the adequate production of growth factors, which has as a consequence the manifestation of the different signs and symptoms of the disease.

Fanconi’s anemia: symptoms

Decreased blood cells

Because the bone marrow is the tissue responsible for forming the various cells in the blood, the red, white, and platelet blood cells will decrease, causing what is known as pancytopenia. The deficiency of red blood cells will produce aplastic anemia related to fatigue, weakness, and paleness. The decrease in white blood cells, responsible for defense, makes the person sensitive to infections. The decline in platelets, responsible for clotting, will make him susceptible to bleeding and bruising of the skin.


The presence of the genes that produce Fanconi anemia are also responsible for causing malformations in the body, the most common of which is the appearance of brown spots or large moles. Others may include malformations of the fingers and forearms, hip bones, spine, and ribs, poor development of sexual organs, impaired implantation of the ears, nose, and hair, and malformations of the kidneys or nervous system central, the latter being able to produce cognitive deficiencies. There is an increased risk of tumor formation in various organs, such as the breasts, uterus, head, neck, and esophagus.

Hormonal deficiencies

As a consequence of the disease, a decrease in the production of certain hormones, particularly growth hormones, is also common, so the child’s development may be delayed. Other hormonal deficiencies can lead to hypothyroidismdiabetes, or hyperinsulinism.

Fanconi’s anemia: diagnosis

The first step in treatment is to make a correct diagnosis of the disease, for which different methods can be applied. A blood test is essential to assess the number of blood cells the patient has, being a reasonably necessary clue in case of deficiencies in all three types of cells. These tests also allow for verifying the hormonal elements.

There are specialized tests that allow studying the behavior of blood cells in terms of their life cycle, through which the disease can also be diagnosed. Sometimes a bone marrow sample is needed for study in a laboratory. The physical examination allows them to identify the different malformations that accompany this disease and corroborate the physical manifestations of hormonal deficiencies.

Treatment of Fanconi anemia

When a person suffers from Fanconi anemia, perhaps the most important of all is the scheduled visits with the doctor who treats him since, in this way, he will be able to be aware of the possible changes that occur in the patient’s body, which they can be pretty significant, such as the development of a tumor or cancer.

The treatment of the disease consists basically of replacing the elements that are insufficient or deficient. Patients with the most severe cases may require blood transfusions to make up for the deficiencies. Still, in general, treatment with drugs, which are used to replace growth factors, can be sufficient to level the blood’s components temporarily.

Bone marrow transplantation is an alternative since, in this way, the patient’s deficient marrow can be replaced by one in good condition that can perform its function correctly, being perhaps the best option to treat the disease permanently.

This article is merely informative, at FastlyHeal .com we do not have the power to prescribe medical treatments or make any type of diagnosis. We invite you to see a doctor in the case of presenting any type of condition or discomfort.

If you want to read more articles similar to Fanconi Anemia: symptoms and treatment , we recommend that you enter our category of Blood, heart and circulation .

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