Fanconi anemia is a hereditary and serious disease (discovered in 1927 by a Swiss pediatrician named Guido Fanconi). It manifests itself preferably in children through anemia and infectious and hemorrhagic episodes that become persistent and severe.
It is caused by the progressive disappearance of blood cells (red and white blood cells and platelets). Those who suffer from it have a high predisposition to suffer cancer, especially leukemia. Fortunately, there are not many cases on a global scale. It is estimated that one child in every 350,000 live births suffers from it.
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How can it be diagnosed?
Some characteristic signs of this disease are:
Apparent birth defects , which can affect any organ of the body or the general physiognomy, among which the following stand out:
- Short stature (present in half of the cases) and low birth weight.
- Thumb and arm abnormalities: non-existent, misshapen, incomplete thumbs, or an extra finger.
- Skeletal system abnormalities, such as hip or spinal cord defects.
- Renal compromise: absence of a kidney at birth, deformed or joined kidneys.
- Light brown spots larger than a mole in different areas of the body.
- Head and eyes smaller than normal.
- Heart disease (especially cavities)
- Stomach, esophagus, or intestinal problems that require surgery.
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Chromosome breakage and other tests
Through a small sample of blood, interventions are carried out on some of its components, such as white blood cells. The results must be complemented and contrasted with other exams.
Hematological problems of the patient with Fanconi anemia
Aplastic anemia is common. It is considered the first symptom of possible Fanconi anemia.
What is the affected chromosome or gene? What is its pathophysiology?
Eight AF genes have already been characterized as responsible for the disease . Among them A, C, D1, D2, E, F, G, L. Mutations in gene A occur in 65% of cases, in gene C in 15% and in gene G in around the 10% of cases, but these percentages vary by population. Some scientists are studying the function of the proteins that these genes code for and the possibilities of transferring healthy genes to those with the disease.
Is it true that fanconi anemia is leukemia? Why?
It is not uncommon for the diagnosis of fanconi anemia to follow the diagnosis of myelodysplastic syndrome (an abnormal differentiation in the cells responsible for producing red blood cells, white blood cells, and platelets). Sometimes myelodysplastic syndrome progresses to myeloid cell leukemia.
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Is it genetic or hereditary?
Like other types of anemia, fanconi anemia is autosomal recessive, so it is hereditary . It is associated with mutations in some of the first 13 genes that cause FA, as well as 8 proteins subject to them (FANC A, FANC B, FANC C, FANC E, FANC F, FANC G, FANC L and FANC I). Correlations between AF subtypes, genetic mutations and the behavior of the disease have been studied. To inherit it, each parent must contribute one of the genes of that pair.
There is a subtype of fanconi anemia, type c. What is it?
In patients with FANC C mutations, or type c fanconi anemia, aplasia arises earlier and survival is shorter than in carriers of other mutations.
Consequences of suffering from it during pregnancy
During pregnancy, it is also possible to detect fanconi anemia through tests such as amniocentesis or a chorionic villus sampling. If the parents are carriers of the gene, embryo selection can be used before conception.
Once the child is born with the genetic abnormality that gives rise to the disease, it is only possible to perform treatments in search of a better quality of life. In many cases the solution is a bone marrow transplant, especially from a person with similar tissues on a genetic and immunological scale, this usually occurs between siblings. However, the probability that they are compatible is usually close to 25% of the cases.
Cure of the disease is seen in 8 out of 10 children. Other treatments used to treat fanconi anemia are the use of androgens and hematopoietic growth factors; but they have been shown to be palliative. In the long run the marrow stops responding to them .
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The relationship with fanconi syndrome
Fanconi syndrome is a disease that affects the kidney and is characterized by an alteration in the proximal renal tubules. It is evident because substances such as glucose, phosphates, bicarbonate and amino acids are eliminated through the urine. As a consequence, kidney function is progressively compromised and kidney failure can occur.
There is no relationship between fanconi anemia and fanconi syndrome , rather that both pathologies were discovered by the Swiss pediatrician Guido Fanconi.
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Articles on other types of anemia
We leave you a list with the articles of the other types of anemia that we have created, to make it easier to find information:
- Anemia: Risks, Causes, Treatments and Diagnoses
- Macrocytic Anemia: Medical and Natural Treatments, Causes and Diagnosis
- Hemolytic Anemia: Risks, Causes, Treatments and Diagnoses
- Iron Deficiency Anemia: Risks, Causes, Treatments, And Diagnoses
- Sickle Cell Anemia: Risks, Causes, Treatments, and Diagnoses
- Fanconi Anemia: Risks, Causes, Treatments, And Diagnoses
- Aplastic Anemia: Risks, Causes, Treatments, And Diagnoses
- Sideroblastic Anemia: Risks, Causes, Treatments, and Diagnoses
- Pernicious Anemia: Risks, Causes, Treatments, And Diagnoses
- Normocytic Anemia: Risks, Causes, Treatments, and Diagnoses
- Small Cell Anemia: Risks, Causes, Treatments, And Diagnoses
- Megaloblastic Anemia: Risks, Causes, Treatments, And Diagnoses
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