Fanconi Anemia (FA) and Bloom Syndrome are two types of rare hereditary chromosomal disorders. A person with FA suffers from bone marrow failure, cancer of the head and neck, and acute myeloid leukemia; whereas a person with Bloom Syndrome suffers from growth retardation, a wide array of cancers and immunodeficiency. We will be focusing on Fancon's anemia in this article.
Fanconi's anemia results due to presence of an abnormal gene that is responsible for cell damage. Due to this gene, the cells are unable to repair their damaged DNA. As this is an inherited disorder, a person has to inherit one copy of the abnormal gene from each parent. FA usually is seen amongst children aged between 2 and 15.
Some of the symptoms associated with Fanconi's anemia include the following:
Fanconi's anemia is diagnosed with the help of many different tests, such as biopsy of the bone marrow, performing a complete blood count, conducting developmental tests, hearing tests and genetic tests to look for damaged chromosomes.
Children with mild to moderate Fanconi anemia usually do not require blood transfusion. Such patients just need to have regular checkups and blood count tests. However, the patients are monitored closely, as they are at a higher risk of developing cancers, particularly leukemia, cancers of the neck, urinary system and head. Growth factors, such as erythropoietin, can help improve the blood count. However, the effect is temporary.
Bone marrow transplant is the recommended treatment to treat problems associated with blood count. Usually, the donor marrow is taken from a sibling. After a successful bone marrow transplant, the patient would still need regular checkups, as the risk of developing malignancies does not reduce.
If a suitable bone marrow donor cannot be found, the patient is put on hormone therapy, which is given with low doses of steroids. However, after a period of time, the drugs stop working.
The survival rate for Fanconi anemia varies from person to person. Usually, the prognosis is poor in patients with extremely low blood count. However, with newer and improved techniques for bone marrow transplants, FA patients now have improved survival.
People with FA in their family should seek genetic counseling to understand their risk. Today, many patients who can afford it are turning towards blood and marrow stem cell transplant. However, even with these latest treatments, the risk of developing certain types of cancers remains.