Health&Fitness Talk

Supporting Healthy Life Styles

Fanconi Anemia Fanconi Anemia
Fanconi Anemia is one of those rare conditions that you don't hear about until it affects you or someone you know. Fanconi anemia... Fanconi Anemia

by Kimberly Allen RN

Fanconi Anemia is one of those rare conditions that you don’t hear about until it affects you or someone you know.  Fanconi anemia is a complex inherited blood disorder that is a member of the aplastic anemia family.  Though rare, it is the most common of the aplastic anemia’s.  Fanconi anemia is more common among people of Eastern European Jewish descent as well as white natives of South Africa that are descended from German, French and Dutch settlers.

Fanconi Anemia is a genetic blood disorder that can also lead to abnormal development of the extremities.

Fanconi anemia is an autosomal recessive disorder which means you need to inherit a mutated gene from each parent making a pair.  If you inherit only one mutated gene then you are a “carrier”.  Experts estimate that approximately 1 out of every 180 people in the US are carriers leading to approximately 1in every 130,000 births having Fanconi anemia.  However, of those they also estimate that 1 out of every 90 are Jews of Eastern European descent are carriers with 1 in every 30,000 being born with Fanconi anemia in the US every year.  Fanconi anemia affects both males and females equally and though it is more prevalent in certain groups it affects all ethnic groups.
Fanconi anemia affects your bone marrow, which is the soft tissue in the center of certain bones that produce blood cells.  In Fanconi anemia your bone marrow is unable to produce new blood cells in sufficient quantity to maintain your body’s functions.  Children that are born woth Fanconi anemia also have an increase risk of birth defects as well as numerous other serious health issues including cancer.  In fact, approximately 10% of all children born with Fanconi anemia will also develop leukemia.  Also, approximately 75% of all children born with Fanconi anemia will be born with one or more birth defects including a short stature, and low birth weight or they may have abnormalities in their arms or thumbs.  For example, the thumbs could be misshaped, missing or maybe even have extra thumbs, also the forearms could be underdeveloped or missing one of the bones.  They also frequently have abnormalities in different organs including the kidneys, heart, and central nervous system as well as the gastrointestinal system.  In addition to leukemia there are several other cancers that children born with Fanconi anemia have a higher risk of developing including cancers of the head, and neck including brain tumors as well as cancers of the gastrointestinal sysytem especially liver cancer.  Girls with Fanconi anemia have a higher risk of developing a variety of gynecological cancers including cervical cancer.
The symptoms of Fanconi anemia are very similar to those of other health problems including other blood disorders.  Each child will experience a variety of symptoms but the most commonly reported symptoms include severe fatigue unrelieved with rest, and frequent infections.  They may also have frequent nose bleeds and their gums may bleed easily when brushing their teeth.  Children with Fanconi anemia will also bruise easily and frequently will not know how they got the bruise.  Laboratory tests will show low blood counts in all cells including red blood cells, white blood cells and platelets.
Hearing the Dr say that your child has Fanconi anemia can only be described as devastating and terrifying.  It’s not uncommon for parents of a child diagnosed with Fanconi anemia to blame themselves for causing the child to have the illness.  However, remember there are many carriers and very few of them know they’re carriers.  Because Fanconi anemia is a life threatening condition it can cause a great deal of stress and anxiety for the whole family.  It’s important to find a medical facility that specializes in treating children’s diseases as these facilities are better equipped to meet the needs of both your child as well as your whole family than small rural community hospitals are.  It’s important to understand that a diagnosis of Fanconi anemia affects the whole family not just the child with Fanconi anemia.  There are numerous facilities across the country with traiined professionals that are committed to helping your child and your family get through the difficulties that come with a diagnosis of Fanconi anemia.  There is no cure for Fanconi anemia, however, there are treatments available that can help your child ranging from androgen therapy to bone marrow transplants.  There are also numerous clinical trials going on across the country in the hopes of developing new medications and treatments .  Become informed and ask questions, and take advantage of the various Fanconi anemia support groups available.  One of the most difficult tasks you’ll have as a parent is telling your child he/she has Fanconi anemia and how it will affect their life.  These support groups as well as the team of professionals at the facility you have chosen can help you through that process.

Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at  HYPERLINK “”