Fanconi anemia

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at October 30, 2016
StartDiseasesFanconi anemia

Fanconi anemia is a rare condition affecting the blood. Only 1 out of 160,000 people in the world develop this disease. Those with this condition need the consistent care of a doctor. 

Contents

Definition & Facts

When someone has Fanconi anemia, the body does not produce enough red blood cells and white blood cells, and it does not make enough platelets. Without enough red and white blood cells, tissues in the body lack oxygen, and infections can become a problem. Without enough platelets, blood clotting becomes an issue.

Fanconi anemia affects various parts of the body, and it can cause bone marrow failure. It triggers birth defects in children, and it can lead to leukemia. This condition is genetically inherited.

Symptoms & Complaints

Major symptoms of Fanconi anemia include lingering infections, bruising, and internal bleeding. Failure of the bone marrow to make a sufficient supply of red and white blood cells and platelets causes these symptoms. Anemia includes symptoms like difficulty breathing, light-headedness, head pain, poor circulation in the extremities, and discomfort in the upper torso.

Symptoms can also include physical deformities, deafness, uneven skin tone, an abnormal heart, and absence of a kidney.

Additional problems include low birth weight, short height, developmental delays, intellectual disability, and a skull that is smaller than normal (microcephaly).

Women and men with Fanconi anemia may have underdeveloped genitals. Women with this condition may menstruate later than normal or experience menopause early. Problems with pregnancy may occur.

Acute myeloid leukemia is a complication of Fanconi anemia among other types of cancers. Up to 30 percent of people with Fanconi anemia patients develop cancer.

Causes

Fanconi anemia caused by genetic mutations of either the FANCA gene, FANCC gene, or FANCG gene account for up to 90 percent of cases of this condition. That said, genetic mutations on 15 genes have been shown to cause this condition.

When the genetic mutations associated with Fanconi anemia occur, DNA damage results, and the damage cannot be repaired. Cells, including those in the bone marrow, die. When this happens, the supply of blood cells in the body diminishes, causing the wide range of aforementioned symptoms associated with this condition.

Fanconi anemia is typically passed down through autosomal recessive inheritance. This requires both copies of the gene in each cell to have the mutations; parents who are genetic carriers typically do not show symptoms.

Diagnosis & Tests

Because signs of Fanconi anemia do not appear right away, diagnosis of the condition often takes place when a child is between two and 15 years old. Prior to birth, birth defects that developed in the fetus and the possibility of Fanconi anemia may be revealed through prenatal diagnosis.

A doctor who is trying to diagnosis a genetic condition such as Fanconi anemia will look for obvious signs of the disorder. The healthcare practitioner examining the person for Fanconi anemia may measure the person’s head as well as the arms and legs. The space between the eyes may also be measured. There may be eye examinations and neurological tests, X-rays, computed tomography (CT) scans, and magnetic resonance imaging (MRI) scans taken to diagnose the problem.

Taking an assessment of the person’s medical history is another component of the diagnostic process. Since this condition is genetic, the health care practitioner will also assess the family's medical history. If available, genetic tests done by a geneticist will be performed. Other laboratory tests may be conducted as well. A doctor who specializes in conditions of the blood may also take part in the diagnosis. This type of doctor is called a hematologist.

Treatment & Therapy

Treatment for Fanconi anemia depends on the condition of the individual being treated. The person’s age will be considered, and so will the rate at which this person’s blood cells regenerate. Cells in the bone marrow may need to be exchanged for bone marrow cells that are healthier. Medication may be given to assist the body with producing more blood cells.

If the bone marrow is seriously impaired and the person requiring a transplant is young, is without major health issues, and hasn’t had many blood transfusions, a stem cell transplant may be performed. This type of a transplant can help the body make blood cells that are not impaired in any way. The transplant can also hinder subsequent health problems and discomfort.

Other treatment options include androgen therapy, synthetic growth factors, gene therapy, or one or more surgical procedures to correct birth defects caused by Fanconi anemia. Surgery to correct a ventricular septal defect, limb deformities, and problems with the digestive system may be recommended in order to improve quality of life for people with this debilitating illness. 

Prevention & Prophylaxis

Fanconi anemia is a condition that is usually inherited. If Fanconi anemia runs in the family, the advice of a genetic counselor may be opted for in order for prospective parents to gain information about the risk that their child might have the condition. A genetic test can reveal Fanconi anemia in the fetus of a pregnant woman. Regular screening for cancer is important among those diagnosed with this condition.