What is Fanconi anemia?

Fanconi anemia is a hereditary disease, that is, it is transmitted from parents to children. It mainly affects the bone marrow and results in a notable decrease in the production of all modalities of blood cells. Sometimes it is confused with Fanconi syndrome, but they are not the same.

Fanconi anemia primarily affects children. In 80% of cases this alteration is discovered between 4 and 14 years, and at an average age of 7 years. However, in all cases it has been discovered in people between 0 and 35 years.

On average, between one and five children, for every million births, have Fanconi anemia. Likewise, one in 300 people is a carrier of evil. There are some populations where the prevalence is higher. Until now, In the medical literature about 2,000 cases of this disease have been described.

What is Fanconi anemia?

Fanconi anemia is an inherited disorder whose main characteristic is the inability to produce an adequate amount of new blood cells.

Fanconi anemia is a hereditary disorder, serious and rare, which causes bone marrow failure. Because of this evil, the bone marrow It cannot produce new blood cells in an amount sufficient for the body to function properly.

This disorder affects the ability of the cord to produce all three types of blood cells: red blood cells, white blood cells and platelets. The former carry oxygen; the second fight infections; and the third contribute to the blood clotting process.

In some cases, Fanconi anemia also causes abnormal blood cells to occur, which leads to the development of serious diseases such as leukemia. Although this disease is a hematological disorder, that is, associated with blood, it can also affect different organs and systems.

Children who have this bad birth have a higher risk of developing various types of cancer, as well as other serious health conditions.

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Causes and types of Fanconi anemia

This disorder is due to the mutation of some genes that have to do with DNA repair and genomic stability. To inherit this disease it is necessary that both parents be carriers of the abnormal gene.

So far 13 genes have been identified with mutations that cause Fanconi anemia. These, in turn, are related to 8 proteins dependent on them. TAll this gives rise to different subtypes of this disorder, each of which has different characteristics and courses.

For example, in the subtype FANC C the onset of symptoms is earlier and the survival rate is lower. In the subtype FANC G It is more likely to develop leukemia or solid tumors. In the subtypes FANC D1, FANC J Y FANC N the risk of breast cancer is increased.

Symptoms and diagnosis

The diagnosis of Fanconi anemia may involve a complete blood count, bone marrow biopsy, x-rays, among other tests.

The main symptom of this type of anemia is spinal failure. There is a deficit of red, white and platelet cells. But nevertheless, in up to 40% of patients only the platelet deficit is detected, a condition that is called thrombocytopenia.

75% of those who suffer from this disease have some kind of abnormality in their body, at birth. Sometimes they are facial, skin abnormalities, hand defects or very small size. The abnormalities also appear in internal organs such as the heart or kidneys.

It is estimated that up to 30% of those affected by this type of anemia also develop cancer. In 28% solid tumors appear. The diagnosis of the disease is made based on clinical manifestations and through tests such as:

  • Complete blood count
  • Bone marrow biopsy
  • Chromosome damage tests.
  • X-ray of the hand.
  • Audiometry and others.

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The most common is that the basis for the treatment of Fanconi anemia is the transfusion of red blood cells and platelets, especially when the symptoms are very intense. Too, androgenic derivatives are commonly prescribed to reduce anemia and prevent transfusions, But this can cause significant side effects.

Bone marrow transplantation is an effective measure to exert control over the disease, but does not prevent the development of cancers derived from it. Hormone therapy with low doses of corticosteroids can be an effective measure for those without a bone marrow donor.

People who have mild or moderate symptoms should only go to a regular checkup. It is common for men with this type of anemia to have fertility problems. Survival rates are very variable.