Fanconi's anemia is a type of congenital anemia, a rare and serious genetic disease. The main symptoms are bone defects that are still embryonic, short stature and the characteristic appearance of the face. What are the other symptoms of Fanconi anemia?

Fanconi Anemiais a bone marrow disease that causes leukemia. It deforms bones, impairs and disrupts the functioning of the nervous system.

The first stages of the disease are sometimes confused with other diseases, so too late diagnosis and lack of treatment at the beginning of the disease development result in high patient mortality.

Fanconi anemia causes damaged bone marrow

The disease impairs the bone marrow function, reducing the amount of all blood components. It is in the bone marrow that red blood cells, white blood cells and platelets are formed as a result of numerous divisions of stem cells. These cells then enter the bloodstream.

In aplastic anemia, stem cells are damaged, which reduces the number of cells that arise from them.

Aplastic anemia occurs at any age and can be caused by acquired or congenital dysfunction. Congenital aplastic anemia is calledFanconi anemia .

Symptoms of Fanconi Anemia

Typical symptoms of the disease are:

  • low rise
  • missing or deformed thumb or extra finger
  • skin discoloration (skin spots: brown or the color of coffee and milk, large freckles)
  • microcephaly, i.e. unnaturally small dimensions of the skull
  • characteristic facial appearance (deformation of the lower jaw, wide nose at the base)
  • bone defects

In addition, there may be symptoms such as:

  • disorders of the nervous system, vision (ptosis, strabismus, cataract) and hearing
  • mental retardation, learning disabilities
  • defects of the genitourinary system (boys have a small penis or no penis, small testicles; girls have no uterus or vagina, early menopause
  • heart defects
  • hip dysplasia

Fanconi anemia finally treatable!

- Fanconi's anemia is a rare disease. Very dangerous. Onea third of patients develop acute myeloid leukemia. Some of them die. There is also the risk of various types of infections. The only effective treatment is the transplantation of stem cells from bone marrow or cord blood - explains Dr. Marek Ussowicz, specialist in paediatrics and transplantology from the Department of Bone Marrow Transplantation, Hematology and Pediatric Oncology, Medical University of Wroclaw (source: poranny.pl, 23/06/2011)

In 2011, doctors managed to cure a 12-year-old girl living near Białystok from Fanconi anemia. Fanconi's anemia diagnosed in Dominika Paluszek was cured with umbilical cord blood and stem cells from her younger brother's bone marrow. Long-term search for donors ended with antigenic incompatibility of the cells with the girl's cells.

It was only Dominika's mother's next pregnancy that saved her older daughter. At the time of delivery, cord blood was collected and secured. A year later, the bone marrow was collected from the girl's younger brother. Before the transplant, a person with Fanconi's anemia undergoes severe chemotherapy. Its task is to completely destroy the marrow.

Fanconi Anemia Tests

The basic drama is a test for the speed of regeneration of white blood cells. If, in contact with substances that damage them, white blood cells are able to regenerate quickly, aplastic anemia can be ruled out.

If your regeneration capacity is reduced and your white blood cells are building up more slowly than normal, you may suspect you have Fanconi anemia.

Treatment methods for aplastic anemia

Treatment of aplastic anemia does not always produce the desired results. Only some patients benefit from treatment with androgens (male hormones), which mobilize the body to produce red blood cells. An effective method of treatment in the current state of research is bone marrow stem cell transplantation.

Specialists are developing a gene therapy that will permanently combat Fanconi's anemia in patients.

This will be useful to you

The name of the disease comes from the name of the Swiss pediatrician Guido Fanconi, who in 1927 was the first to describe the symptoms of the disease. Anemia should not be confused with Fanconi syndrome, a kidney disease that is named after the same specialist.

Category:

Cardiology