Fanconi anemia have defined by Doctor Fanconi in year 1927. This disease is a rare disease that may seen about 1 in 1500 births. Defective repair of Deoxyribonucleic acid (DNA) causes to this disease. It is an autosomal recessive inherited disorder also. For this reason, if an affected child born in a family, both of the family members as mother and father must carry this defective gene. For this same reason, this disease is more common in families who have consanguineous married. These families children will %50 carriers, %25 diseased and %25 will completely healthy.
Individuals carrying this disease are usually born by low birth weight and they are short of the optimum length. In these patients have small head, small triangular face and small eyes attract attention during birth also. In some patients, the absence of thumb may seen in both hands and this sign a frequent finding. The absence of radius bone in anterior arm may seen also. With it the congenital protrusion of hip can also seen during birth. Another finding that can also seen is ear clip anomalies.
Light brown or dark stains can seen on the skin. This disease, which can diagnosed in 8-10 years of age may start with the symptoms of anorexia, palpitations, weight loss and serious developmental retardation that the weight and height will below 3 percentile. In girls, genital organ structural disorder can seen by %20 percent. Cardiac murmurs due to the anemia have reported in these patients examination.
Generally, patients intelligence levels are normal. But in some patients, mental retardation and deafness may rarely seen.
Anemia will absolutely present in this patients and usually the HgB level is below 10 mg / dL. The hematocrit (HCT) value is proportionately low. In some cases the hematocrit level may decrease up to %5. Pancytopenia may seen in these patients also due to aplastic bone marrow.
The platelet count is usually below 20,000 / mm3. With it, the leukocyte count is usually below 4000 / mm3 also.
When flow cytometry may performed, characteristic cells for the Fanconi aplastic anemia will observed.
The Western-Blot technique shows the long proteins formed by ubiquitination of FANC D2.
It is diagnostic to demonstrate increased chromosomal breaks in T lymphocytes cultured from these patients in genetically diepoxybutane (DEB) or mitomycin C (MMC).
Absence of radius bone, metatarsal defects and absence of thumb can seen by hand and forearm direct radiography.
Abdominal computed tomography shows kidney defect defects like horseshoe kidneys, kidneys with incomplete formation and ectopic kidneys.
Support of blood cells is necessary for these patient. When platelet deficiency develops, platelet reinforcement will necessary. With it, if the Hb level decreased, erythrocyte reinforcement should helpful. Since bone marrow transplantation may be required, blood products should be taken from close relatives. This will helpful to prevents from bone marrow transplant rejection. If the bone marrow will transplanted, the best donor will the healthy siblings of the patient also. Tissue HLA antigens are more harmonious than foreign ones and the risk of rejection development is lesser.
Apart from this, fighting with infections is important in these patients. The amount of white blood cells in the blood is low and the infections will progress seriously. Appropriate antibiotic therapy should started without delay. In these patients, the platelets will seen usually low. For this reason, medication that disturb the clotting like aspirin should never used. Spontaneous bleeding can develop even without using any medications like nose, brain, kidney and various internal organs. Supportive therapy should planned before massive bleeding. Because of the frequently administration of erythrocytes, iron accumulation may develop in the tissues and precautions must be taken.
The use of oxymetholone at a dose of 2 mg / kg / day will reduce the patient’s growth retardation. Growth hormone for growth retardation can use also, but it will increases the risk of developing leukemia in ageing.
In severe neutropenia, granulocyte colony stimulating factor (G-CSF) will helpful at a dose of 5 μg / kg / day. This medication will reduce and delay the transfusion of blood products.
Human papillomavirus vaccine should performed in these patients.
Prenatal diagnosis can made at 10-12’th weeks of pregnancy for this disease. Some doctors prefers 16-18’th weeks of pregnancy for amniocentesis. Amniocentesis will diagnosis the fanconi anemia about 100 percent.
The average lifespan of Fanconi anemia patients is 20-30 years. However, about 80 percent of Fanconi anemia patients are living more than 18 years. Patients who live longer than 30 years are also present.