by Kimberly Allen R.N.
Faconi anemia is a member of the group of disorders known as inherited bone marrow failure syndromes (IBMFS’s). Faconi anemia is the most commonly diagnosed of these rare syndromes. It is an autosomal ‘recessive’ genetic disorder. This mean you need a mutated gene from each parent to have Fanconi anemia. That means there’s a 25% chance that any children where both parents are carriers of the recessive gene will develop faconi anemia. In the US it is estimated that 1 out of every 181 people is acarrier of the faconi anemia mutation leading to approximatly 1 out of every 130,000 births a child is born with Faconi anemia. Faconi anemia is more prevelant in Eastern European Jews and Germanic Africans of Southern Africa. Fanconi anemia affects men and women equally.
In Fanconi anemia the bone marrow malfunctions and is unable to produce enough blood cell to make your body function properly. In some cases Faconi anemia can cause your bone marrow to produce blood cells that are not functional. Many but not all children born with faconi anemia are also born with birth defects. They are usually shorter with abnormalties in their skin, eyes, ears, head and arms as well as the kidneys. Many frequently have developmental disabilities.
Approximately 75% of people diagnosed with fanconi anemia also have some type of endocrine problem/ The other thing that makes faconi anemia so dangerous is that it can lead to several different cancers including leukemias, liver and other organ tumors.
Unless there is a known family history faconi anemia is usually not discovered and diagnosed until a child is 10-15 years of age, however some people don’t manifest symptoms until adulthood. The most common symptom of faconi anemia is anemia which causes fatigue that is not relieved by rest. Upon physical examination you and your Dr may notice several things including small brown birth marks known as ‘cafe au lait spots’. Your child may also be shorter than other children their age and have short arms. Frequently the thumbs appear abnormal. A child with Faconi anemia may also have a small head and eyes.
Blood tests will show abnormal blood cell counts in all 3 types of cells. Unfortunately many people are unaware they have Faconi anemia they have developed some form of cancer and Faconi anemia is discovered during testing.
Treatment for Faconi anemis depends on how old you are when diagnosed and how well your bone marrow is functioning. If your bone marrow is still producing all 3 types of blood cells sufficiently to not cause immediate problems your Dr may choose to take a ‘watch and see’ approach doing frequent blood checks to monitor the progress of the disease. Your Dr may also suggest that you have boone marrow tests annually and regular screening for the types of cancer that Faconi anemia puts you at risk for. If the Dr notices a change in your blood counts he/she may also order blood transfusions to raise your blood cell counts to with in normal limits. There are 3 main treatment available for treating Faconi anemia for the long term:
1. Bone marrow transplant is the current standard for treating people with Faconi anemia that’s causing bone marrow failure.
2. Androgen therapy was the standard treatment before bone marrow transplants became more effective. Androgens are synthetic male hormones that can help your bone marrow produce more blood cells.
3. Synthetic growth factors are man made substances that are found in your body that help your marrow make more red and white blood cells.
Advances in medicine and bone marrow transplants has significantly improved a persons chances of living longer with Faconi anemia. The earlier Faconi anemia is detected and diagnosed the greater your chances of a successful outcome.