anemia is the most common type of bone marrow failure and diagnosed in early
childhood. The children are unable to produce white and red blood cells and
platelets due to abnormal gene that damages cells, which keeps them from
repairing damages DNA. It can cause the
pigmentation of skin, abnormal eye size, and short stature. And also they are
at higher risk for leukemia and development of other tumors1.
suspicion of fanconi anemia is based on growth retardation and congenital
defects in combination with life-threatening bone marrow failure2. Signs
and symptoms are anemia, bone marrow failure, birth defects, and developmental
or eating problems. This kind of anemia will be seen between birth and age
10-15 years. It occurs equally in males and females and identified in all
Initially blood test is performed to evaluate the degree of anemia and examine
other body systems. DEB test is a chromosome breakage test is the standard,
definitive test for fanconi anemia. In addition, blood and bone marrow samples
also examined in order to identify the specific gene mutation.
therapy: Androgens are hormones that can improve the blood counts in approximately
factors: G-CSF or GM-CSF stimulates the production of white blood cells. It is
administered as injection.
cell transplant: This treatment will cure for the blood defects in fanconi
adjustments: patients with thrombocytopenia should avoid trauma, such as that
resulting from contact sports, and should use helmets and padding if
participating in such kind of activities. Those with severe neutropenia need to
avoid exposure to people with active infections.
measures are a) vaccinations which will prevent some complications such as
pneumococcal pneumonia, hepatitis and varicella infections. b) cancer
prevention: patients with this disorder should avoid carcinogens and
participate in regular screenings to ensure early diagnosis. C) Genetic
counseling and d) prenatal diagnosis: It can be done by performing the
chromosome breakage test on cells obtained from chorionic villus sampling, from
amniocentesis, or from blood collected from umbilical cord.