Bone Marrow Failure Disorders

If your child has trouble fighting off infections or has bleeding or clotting issues, they may have a bone marrow failure disorder.

Bone marrow is a soft tissue inside the body's bones. Within this tissue are stem cells.

Your body uses stem cells to make:

  • Red blood cells. These cells move oxygen from the lungs to the rest of the body using the protein hemoglobin.
  • White blood cells. Known as leukocytes, these cells fight infections in the body.
  • Platelets. These pieces of cells help the blood clot to stop bleeding and heal cuts.

All of these blood cells are vital to your health. When bone marrow doesn't make enough of these cells, doctors call it bone marrow failure.

Bone marrow failure might also make damaged cells.

What Are Bone Marrow Failure Disorders?

Bone marrow failure disorders are a group of conditions. In other words, there's more than one type of bone marrow failure disorder.

Some types are genetic, meaning parents pass them to their children through genes. Also known as inherited bone marrow failure syndromes, they're more common in kids.

Acquired bone marrow failure disorders come from:

  • Viruses.
  • Exposure to chemicals or environmental toxins.
  • Autoimmune disorders.

Bone marrow failure disorders complications

Children with bone marrow failure disorders are at risk of certain cancers:

  • Myelodysplastic syndrome. Cancer that makes fewer blood cells form.
  • Leukemia, including acute myeloid leukemia. Cancer in the white blood cells.

Types of Bone Marrow Failure Disorders We Treat

Bone marrow failure disorders are rare diseases.

Our experts at UPMC Children's Hospital of Pittsburgh treat a range of genetic and acquired bone marrow failure disorders.

Aplastic anemia

Aplastic anemia is when damaged stem cells keep the body from making enough new blood cells. This disorder can be genetic or acquired.

Myelodysplastic syndrome (MDS)

MDS results from stem cells changing in abnormal ways, causing them to make fewer blood cells. This syndrome is a type of cancer.

Fanconi anemia (FA)

FA is an inherited aplastic anemia that impacts the bone marrow's production of all blood cells.

Sideroblastic anemia (SA)

SA occurs when red blood cells have too much iron and don't form correctly. These anemias are either genetic or acquired, often as part of MDS.

Other types of childhood bone marrow failure disorders

  • Barth syndrome. This inherited disease affects white blood cells and causes infections.
  • Congenital amegakaryocytic thrombocytopenia. This genetic condition leads to fewer platelets in the blood. Sometimes it leads to pancytopenia, a decrease in all three types of blood cells.
  • Congenital dyserythropoietic anemia. This genetic condition results in too few red blood cells and not enough oxygen in the blood.
  • Cyclic neutropenia. This genetic blood disorder causes low levels of white blood cells called neutrophils. Children with this disorder get more infections.
  • Diamond-Blackfan anemia. This condition results from gene changes in the bone marrow not making enough red blood cells. People with this condition might have physical differences in their bones and facial features. They may also have eye and kidney problems.
  • Dubowitz syndrome. This rare genetic disorder causes various physical differences and decreased white and red blood cells.
  • Dyskeratosis congenita and other telomere biology disorders. Changes in the genes or telomeres, structures that support genes, cause these disorders.
  • GATA2 disorders. These conditions include changes to the GATA2 gene, which tells bone marrow how to make blood cells. Children with GATA2 disorders are often anemic, meaning they don't have enough red blood cells to carry oxygen through the body.
  • Kostmann syndrome. Low neutrophils, a type of white blood cell, mark this genetic disease. Children with this disease are more likely to get infections.
  • Pearson syndrome. A random (not inherited) genetic change causes this syndrome. It affects bone marrow's production of all blood cell types, often leading to anemia, fatigue, and infections.
  • Refractory cytopenias of childhood. This is a type of MDS where children do not have enough of certain blood cell types.
  • Reticular dysgenesis. This rare gene change causes low numbers of white and red blood cells. Doctors most often diagnose it in infants.
  • Severe congenital neutropenia. This is a group of genetic conditions diagnosed in infants. Babies with these rare conditions have low levels of neutrophils and get infections more often.
  • Schwachman-Diamond syndrome. This is an inherited disorder in which the bone marrow doesn't make enough white blood cells. Children with this syndrome might get MDS or aplastic anemia. They might also have pancreas and bone differences.
  • Thrombocytopenia disorders. These disorders occur when stem cells don't make enough platelets. A viral infection or an autoimmune disease can cause it. Children with these disorders have frequent bruising or internal bleeding.
  • Thrombocytopenia with absent radii. In this disorder, gene changes lead to a lack of platelets. Also known as TAR syndrome, children with this disorder are also born without the radius bone in each forearm.

Bone Marrow Failure Disorder Symptoms

Since there are many types of bone marrow failure disorders, symptoms vary.

Some symptoms your child might have include:

  • Bruising.
  • Fatigue.
  • Infections.
  • Trouble breathing.
  • Kidney issues.
  • Bone structure differences.

Talk with your doctor if you notice changes in your child or have concerns about something you see.

Diagnosing Bone Marrow Failure Disorders

Bone marrow failure disorders are rare.

To make a diagnosis, doctors gather data and use tests such as:

  • Health history. The doctor will review your child's medical history and records.
  • Symptom report. Tell your doctor about changes you've noticed in your child's health. Mention any new symptoms or changes you've seen in your child. You know your child best, and anything you share helps.
  • Blood tests. Blood tests will count the platelets and red and white cells to see if the levels are correct. They may also look for other proteins to learn why levels are out of wack.
  • Genetic tests. The doctor will take a blood sample to learn if there are changes in your child's genes.

Sometimes, the doctor may suggest a bone marrow aspiration or biopsy to test the bone marrow itself. They will see if the cells that give rise to red and white blood cells and platelets look normal.

An aspiration removes bone marrow in liquid form. A biopsy removes intact bone marrow tissue.

Doctors use a needle to remove the liquid or tissue from the hip bone while your child is under anesthesia.

Bone Marrow Failure Disorders Treatment

How doctors treat your child's bone marrow failure disorder depends on the type they have.

The Bone Marrow Failure Disorders Program experts will work with you and your family to manage your child's care.

Blood or platelet transfusion

Doctors insert a needle into a vein to transfer donated blood from a family member or an unknown blood donor. They take a few hours to complete.

Blood transfusions help prevent anemia, and platelet transfusions stop severe event bleeding.

Immunosuppressants

These are drugs that help keep the immune system from attacking the body's bone marrow. That way, the bone marrow can make more blood cells.

The most common drugs include anti-thymocyte globulin (ATG) and cyclophosphamide.

Bone marrow stimulants

Called hematopoietic growth factor, these drugs trigger a child's bone marrow to make more blood cells.

Bone marrow transplant

Doctors will remove damaged or sick bone marrow and replace it with healthy stem cells.

Depending on the transplant type, healthy cells come from your child, a donor, or umbilical cord blood.

Your child might need chemo or radiation to get ready for a bone marrow transplant.

Your care team will discuss which treatments are best for your child.

Contact the Bone Marrow Failure Disorders Program

Call 412-692-8050.

Why Choose UPMC Children's Hospital for Your Child's Bone Marrow Failure Consult and Care?

You can count on our doctors to partner with you and your family in managing your child's illness.

  • Our experts work with doctors in the Hematology/Oncology Division and the Blood and Marrow Transplantation and Cellular Therapies Program.
  • Our team approach means your child will get care from the Pittsburgh region's top experts in treating bone marrow failure disorders.
  • We're members of the North American Pediatric Aplastic Anemia Consortium. This gives us access to clinical trials with the newest tests and treatments.

When you come for your first visit, you'll talk with a doctor or other team member, based on your child's needs.

They'll talk about any tests your child might need, such as blood tests or a bone marrow biopsy.

They might want to take blood samples from your child during this first visit.

Learn More About Bone Marrow Failure Disorders