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Fanconi Anemia - Facts and Information

  • Date: 2009/12/13 (Rev: 2009/12/14) Disabled World
  • Synopsis : Fanconis Anemia (FA) is a rare form of recessive inherited blood disorder.

Main Document

Fanconi's Anemia (FA) is a rare form of recessive, inherited blood disorder that leads to bone marrow failure. Fanconi's prevents a person's bone marrow from producing enough blood cells for their body to function as it should.

The disorder may also cause a person's bone marrow to produce a number of abnormal blood cells, leading to serious health issues such as leukemia, a form of blood cancer. If both parents carry the gene mutation in the same FA gene, their children have a twenty-five percent chance of inheriting the gene from their parents.

While Fanconi's anemia is a blood disorder, it may also affect a number of the body's tissues, organs, and systems. Children who inherit the disorder present with a higher risk of being born with birth defects. People with FA are also at a higher risk of certain forms of cancers and other types of serious health issues.

Fanconi's anemia is not to be mistaken with Fanconi's syndrome; Fanconi's syndrome affects a person's kidneys. Fanconi's syndrome is also rare, it is a serious condition, and it affects children. Children with Fanconi's syndrome pass large amounts of chemicals and key nutrients through their urine, leading to developmental and serious health problems.

Fanconi's anemia is something that occurs in both females and males; it also occurs across all ethnic groups. A number of people with the disorder develop acute myeloid leukemia (AML) at an early age. People with FA are very likely to develop gynecological, gastrointestinal, or head and neck carcinomas - also at an earlier age than people who develop squamous cell carcinomas in the general population. Those who have successfully undergone a bone marrow transplant and are therefore cured of the blood problem associated with FA still have to pursue regular examinations to look for signs of cancer.

Symptoms of Fanconi's Anemia

People with Fanconi's anemia have white and red blood cell counts, as well as platelet counts, that are lower than average. The fact that they do not have enough white blood cells means they are more prone to infections. A decreased red blood cell count can result in fatigue, and a low platelet count can lead to excessive bleeding. The majority of people with FA experience the following symptoms:

Vitiligo
Scoliosis
Deafness
Small head
Short height
Bone problems
Eye or eyelid problems
Darkened areas of the skin
Small testicles and genital changes
Kidney(s) that did not form correctly
Missing, extra or misshapen thumbs
Small or missing bone in the forearm
Abnormal heart, lungs, and digestive tract
Problems of the hands and the bone in the lower arm

People with Fanconi's anemia can also experience symptoms such as a low birth weight, learning disability, mental retardation, and failure to thrive.

Causes of Fanconi's Anemia

Fanconi's anemia is caused by an abnormal gene that prevents the person's cells from fixing damaged DNA, or removing cell-damaging substances referred to as, 'oxygen-free radicals.' For a person to inherit Fanconi's anemia, they must receive one copy of the abnormal gene from each of their parents. FA is commonly diagnosed in children who are between the ages of two and fifteen years old.

Diagnosing Fanconi's Anemia

There are some common tests involved with Fanconi's anemia. Women who are pregnant may have amniocentesis, or chorionic villous sampling, in order to diagnose FA in their unborn child. Other forms of testing and examinations performed by doctors in relation to Fanconi's anemia can include things such as bone marrow biopsy, developmental testing, ultrasound examination of the person's kidneys, or other forms of imaging studies such as CT scans or MRI's. A doctor may order Complete Blood Counts (CBC's), or apply drugs to the person's blood sample to check for damage to their chromosomes. Hearing tests are common. A doctor may pursue HLA tissue typing while searching for bone marrow donors.

Treatment of Fanconi's Anemia

People with Fanconi's anemia who experience mild-to-moderate blood cell changes and do not require a transfusion might only need regular checkups, yearly bone marrow exams, and frequent blood count checks. A medical professional monitors them for types of cancer; usually lymphoma or leukemia. Medications referred to as, 'growth factors,' such as erythropoietin, GM-CSF, and G-CSF, might improve the person's blood counts for a short period of time.

Receipt of a bone marrow transplant may cure the person of blood count problems related to Fanconi's anemia, with the best donor for the procedure being the person's sister or brother whose tissue type matches them. People who have experienced a successful bone marrow transplant will still need regular checkups due to the risk of cancer.

People do not always have a donor for a bone marrow transplant. For those who do not, hormone therapy in combination with low doses of steroids such as prednisone or hydrocortisone are prescribed. The majority of people who are prescribed this form of treatment do respond to it, although everyone with FA worsens quickly when the medications are stopped. For most people, the medications eventually stop working over time. Other forms of treatment that are available include antibiotics to treat low white blood cell counts and infections, as well as blood transfusions to treat the symptoms of low blood counts.

The majority of people who have Fanconi's anemia visit some different types of doctors. These doctors may include an endocrinologist who treats diseases related to glands, a hematologist who treats blood disorders, an orthopedist, a gynecologist, and a nephrologist who treats kidney disease.

Fanconi's Anemia Facts

Fanconi's anemia is one of several forms of anemia and is a type of aplastic anemia. Bone marrow is the spongy, red tissue inside the larger bones in a person's body. In a person with healthy bone marrow, stem cells are present which develop three types of blood cells the person's body requires:

Red blood cells: Red blood cells carry oxygen to all parts of the body. Red blood cells also remove carbon dioxide from the body's cells and carry it to the lungs to be exhaled.
White blood cells: White blood cells help the body fight infections.
Platelets: Platelets help a person's blood clot.

The lifespan of the average red blood cell is approximately one-hundred and twenty days. White blood cells usually live for less than one day, while platelets live around six days. Because of this, a person's bone marrow constantly needs to produce new blood cells. If a person's bone marrow is unable to produce enough new blood cells to replace the ones that have died, they will experience serious health issues.

People who have Fanconi's anemia and survive to adulthood are far more likely than people in the general population to develop cancerous solid tumors. Approximately ten-percent of people with FA have leukemia. The tumors may develop into the person's tongue, mouth, throat or esophagus. Women with Fanconi's anemia are at a greater risk of developing tumors in their reproductive organs than women without the disorder.

Due to the unpredictable nature of Fanconi's anemia, the average lifespan of people with the disorder is between twenty and thirty years. The most common causes of death related to the disorder are leukemia, bone marrow failure, and solid tumors. Medical science has made advances that have improved the chances of surviving longer with Fanconi's anemia. Blood and marrow stem cell transplant is one of these advances in treatment.

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