Bone marrow is the soft issue located in the center of your bones. Its primary function is to generate new red blood cells through a process called hematopoiesis, which is essential for a healthy immune system. Inherited bone marrow disorders, such as Fanconi anemia, prevent bone marrow from producing enough of these red blood cells for your body to properly function. In some cases, this could lead to more serious conditions, like leukemia.

The team of hematology experts at Dell Children’s Blood and Cancer Center in Austin provides innovative diagnostics and treatments for pediatric bone marrow disorders to ensure that your child receives the comprehensive care that he or she needs.

Wellness and Prevention

Fanconi anemia is a rare bone marrow disorder that primarily affects children. Because it is an inherited disease, it is not preventable. However, there are early warning signs that typically show up before the age of 12, including:

  • Eye, ear or congenital heart defects present from birth
  • Kidney problems
  • Excessive tiredness
  • Shortness of breath
  • Chest pain
  • Frequent nosebleeds
  • Pale skin

Diagnosis

Symptoms of Fanconi anemia are not always present from birth, and because they can be similar to signs of other blood or bone marrow disorders, a series of tests are needed to accurately diagnosis this condition:

  • Genetic tests such as a chromosome breakage test, cytometric flow analysis and mutation screening to confirm or rule out the presence of the abnormal or mutated genes that cause Fanconi anemia
  • Blood tests, which may include a complete blood count (CBC) to measure the number and condition of red blood cells, white blood cells and platelets in your child’s blood, and a reticulocyte count to measure the number of new red bloods generated by your child’s bone marrow
  • Bone marrow tests, which analyze a sample of your child’s bone marrow to determine whether or not it’s producing enough new red blood cells

Treatments

Although there is no cure for Fanconi anemia, there are a number of both short- and long-term treatment methods to help manage the condition. While the exact form of treatment that is best for your child will depend on the severity of his or her symptoms based on diagnostic tests, the most common approaches include:

Stem Cell Transplant

For many children, blood or bone marrow stem cell transplantation is the most effective long-term treatment option for Fanconi anemia. This is a two-step process that involves the use of radiation or chemotherapy to first destroy the unhealthy cells in your child’s body, which are then replaced with healthy cells taken from a donor.

Growth Factors

Natural or synthetic growth factors may help to stimulate your child’s own bone marrow to generate more red and white blood cells. Ongoing research is continuing to undercover the possible applications of this therapy for children with bone marrow disorders.

Consistent Management and Monitoring

Because there is currently no cure for Fanconi anemia, short-term strategies for post-bone marrow transplant management and surveillance are a key aspect of your child’s comprehensive treatment. This might include regular blood tests to monitor your child’s red blood cell count, annual bone marrow tests, regular screening for leukemia and blood transfusions as needed.

Aftercare

As treatments for pediatric bone marrow disorders like Fanconi anemia continue to advance, the quality of life and expected lifespan of children with these disorders continue to improve. Our team of pediatric hematology specialists is dedicated to providing the most advanced ongoing multidisciplinary care for children and teens affected by bone marrow disorders currently available.

Our experts are also actively engaged in clinical research projects to continue to better understand childhood bone marrow disorders and the most effective approaches to their treatment and management.