Bone Marrow Failure Disorders

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

Your body uses stem cells to make:

  • Red blood cells, which have hemoglobin, a protein that moves oxygen from the lungs and throughout the body.
  • White blood cells, also known as leukocytes, which fight infections in the body.
  • Platelets, which help 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 produce damaged cells.

Contact the Bone Marrow Failure Disorders Program

  • Call us at 1-412-692-8050.  

What Are Bone Marrow Failure Disorders?

Bone marrow failure disorders are a group of conditions. In other words, there is 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 are more common in children.

Acquired bone marrow failure disorders come from:

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

Types of Bone Marrow Failure Disorders

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, a condition in which damaged stem cells keep the body from making enough new blood cells. This disorder can be genetic or acquired.
  • Barth syndrome, an inherited disease that affects white blood cells and causes infections.
  • Congenital amegakaryocytic thrombocytopenia, a genetic condition marked by fewer platelets in the blood. Sometimes it leads to pancytopenia, a decrease in all three blood cell types.
  • Congenital dyserythropoietic anemia, a genetic condition resulting in too few red blood cells and not enough oxygen in the body.
  • Cyclic neutropenia, a genetic blood disorder causing low levels of certain white blood cells called neutrophils. Children with this disorder get more infections.
  • Diamond-Blackfan anemia, a condition that results from changes in certain genes. Children with this condition have bone marrow that doesn't make enough red blood cells. They might also have physical differences in bones and features, as well as problems with their eyes and kidneys.
  • Dubowitz syndrome, a rare genetic disorder that causes a range of physical differences. Children with this syndrome have frequent infections due to decreased white and red blood cells.
  • Dyskeratosis congenita (and other telomere biology disorders), a condition related to gene mutations or changes in telomeres, a part of genes.
  • Fanconi anemia, a type of inherited aplastic anemia that impacts the bone marrow's production of all blood cells.
  • GATA2 disorders, conditions where there are 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, a genetic disease marked by low neutrophils, a type of white blood cell. Children with this disease are more likely to get infections.
  • Myelodysplastic syndrome, a group of conditions resulting when stem cells change in abnormal ways, causing them to make fewer blood cells. This syndrome is a type of cancer.
  • Pearson syndrome, caused by a genetic change, is not an inherited disease. This syndrome affects bone marrow's production of all blood cell types. It often leads to anemia, fatigue, and infections.
  • Refractory cytopenias of childhood, a type of myelodysplastic syndrome where children do not have enough of certain blood cell types.
  • Reticular dysgenesis, a rare gene mutation that causes low numbers of white and red blood cells. It mostly occurs in infants.
  • Severe congenital neutropenia, a group of genetic conditions found in infants. Babies with these rare conditions have low levels of neutrophils and get infections more often.
  • Schwachman-Diamond syndrome, an inherited disorder in which the bone marrow doesn't make enough white blood cells. Children with this syndrome might get myelodysplastic syndrome or aplastic anemia. They might also have problems with the pancreas and differences in bone structure.
  • Sideroblastic anemia, types of anemia that occur when red blood cells have too much iron and don't form correctly. These anemias are either genetic or acquired, often as part of myelodysplastic syndrome.
  • Thrombocytopenia disorders occur when stem cells don't make enough platelets. These disorders might come from a viral infection or an autoimmune response. Children with these disorders have frequent bruising or internal bleeding.
  • Thrombocytopenia with absent radii, a disorder in which gene changes cause an insufficient amount of blood platelets to form. Also known as TAR syndrome, children with this disorder are born without the radius bone in each forearm.

Complications of Bone Marrow Failure Disorders

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

  • Myelodysplastic syndrome, a cancer that makes fewer blood cells form.
  • Leukemia, cancer in white blood cells.
  • Acute myeloid leukemia, a type of cancer found in white blood cells as they form in the bone marrow.

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 certain tests such as:

  • Your child's medical history and records.
  • Any changes you've noticed in your child's health.
  • Blood tests.
  • Genetic tests — where doctors look at blood, hair, skin, or tissue — to learn more about any changes in your child's genes.
  • Bone marrow biopsy, a test in which doctors remove and study a small amount of bone marrow tissue.

Talk with your doctor about any new symptoms or changes you've noticed in your child. You know your child best and anything you share helps.

Bone Marrow Failure Disorders Treatment

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

Our experts in the Bone Marrow Failure Disorders Program work with you and your family to manage your child's care.

Treatments for bone marrow failure might include:

  • Blood or platelet transfusion. Doctors insert an IV into a vein to transfer donated blood from a family member or an unknown blood donor. They take a few hours to complete.
  • Medicine. Drugs known as immunosuppressants help keep the immune system from attacking the body's own bone marrow.
  • Bone marrow transplant. During this surgery, doctors remove damaged bone marrow and replace it with healthy stem cells. Depending on the transplant type, healthy cells come from your child, a donor, or from an umbilical cord. Your child might need chemotherapy or radiation as part of bone marrow transplant.

Your care team will talk with you about which treatments are right for your child.

Your Child's Bone Marrow Failure Consult and Care

What to Expect

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

Doctors in the Bone Marrow Failure Disorders Program work with experts in the Pediatric Hematology/Oncology Division and the Blood and Marrow Transplantation and Cellular Therapies Program. Our team approach means your child will get care from the region's top experts in treating bone marrow failure disorders.

Our membership in the North American Pediatric Aplastic Anemia Consortium gives us access to clinical trials with the newest tests and treatments.

When you come for your first visit, you will:

  • Talk with a doctor or other member of our team, depending on your child's needs.
  • Talk about any tests your child might need, such as blood tests or a bone marrow biopsy. Doctors might want to take some blood samples from your child during this visit.

Learn More About Bone Marrow Failure Disorders