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Bone marrow failure

About bone marrow failure in children

Bone marrow is the spongy filling in the center of our bones. Stem cells inside the bone marrow produce platelets as well as red and white blood cells. This is a really important process because white blood cells help fight infection, red blood cells carry oxygen and platelets help the blood clot.

Bone marrow failure, also known as aplastic anemia, is a rare disorder in which the bone marrow fails to make these critical blood cells. Aplastic anemia results in (low hemoglobin), thrombocytopenia (low platelets) and leukopenia (low white cells).

What are the symptoms of bone marrow failure?

The symptoms of bone marrow failure can vary, but most commonly include:

  • Anemia, which can cause fatigue, headache, exercise intolerance, fast heart rate and a pale appearance (pallor)
  • Bleeding symptoms like easy bruising, a rash known as petechiae, gum bleeding, nose bleeds and blood in the urine or stool
  • Increased infections, recurrent fevers and mouth sores

In addition, some of the inherited disorders of aplastic anemia often are associated with characteristic congenital malformations. It is important to remember while these may be present, some children exhibit no obvious physical symptoms.

Some of the more common physical attributes associated with bone marrow failure include:

  • Short stature
  • Skeletal anomalies
  • Renal (kidney) and cardiac malformations
  • Malabsorption
  • Immune dysfunction
  • Endocrine dysfunction
  • Dermatologic changes

If not addressed, some of these symptoms may be life-threatening, which is why it is critical to talk to your provider if your child is experiencing any complications with bleeding or if you are pregnant and have aplastic anemia.

What causes bone marrow failure?

Aplastic anemia can be inherited or acquired. Bone marrow failure typically happens in two phases, with one peak in childhood at two to five years (mainly due to inherited causes) and a second peak in young adults 16 to 25 years (inherited or acquired causes).

The vast majority of patients present beyond 50 years of age (typically due to acquired causes). 

The majority of children (75 percent) with inherited bone marrow failure have an identifiable etiology. The majority of inherited causes for aplastic anemia in children are syndromes like:

  • Fanconi anemia (FA)
  • Dyskeratosis congenita (DC)
  • Shwachman-Diamond syndrome (SDS)
  • Congenital amegakaryocytic thrombocytopenia (CAMT)
  • Diamond-Blackfan anemia (DBA) - predominantly decreased red cells only

These syndromes have variable patterns of inheritance and may present with or without physical anomalies. It is important to note that in the early stages, blood counts may be normal.

Acquired aplastic anemia, which accounts for most cases in older children, is a disorder that often responds to immunosuppressive therapy. In contrast, immunosuppressive therapy is not indicated in the inherited syndromes.

How is bone marrow failure diagnosed?

In most cases, bone marrow failure is suspected when your child has an abnormal blood count taken during a blood test. The blood test will show a decrease in hemoglobin, white blood cell count and platelets – sometimes only one cell line is initially affected. The red cells are also usually large in size. Our team may evaluate previous blood counts to help to identify a trend.

Once the diagnosis of aplastic anemia is confirmed, we recommend your child undergo an evaluation.

For inherited aplastic anemia (often but not always associated with other physical findings), specialized tests include diepoxybutane chromosome breakage (FA), telomere studies (DC), red cell adenosine deaminase (DBA). Molecular panels for diagnosis of inherited bone marrow failure syndromes are also available and may be important in determining therapy and presence of mutations in other family members.

For acquired aplastic anemia, other testing may include viral studies (EBV, CMV, HIV, hepatitis herpes simplex) or specialized testing for paroxysmal nocturnal hemoglobinuria, autoimmune and immunologic evaluation.

How do you treat bone marrow failure?

  • Supportive care: This includes blood product transfusions, prophylactic antibiotics or aggressive treatment of fever and infections.
  • Curative therapies:
    • Bone marrow (stem cell) transplant is often required for progressive aplastic anemia in congenital disorders. It is also the therapy of choice by our providers in acquired aplastic anemia if a matched sibling donor (without the same genetic abnormality) is available.
    • Immuno-suppressive therapy (IST) is highly successful in idiopathic acquired aplastic anemia, but is not usually as effective in congenital disorders.

Complications of bone marrow failure

Some congenital aplastic anemia may involve abnormalities in other organ systems and often is treated by our multispecialty team of providers.

Some of these syndromes may evolve into a pre-leukemic state known as myelodysplastic syndrome (MDS) or into acute leukemia. Subsequent MDS may also occur post IST and less frequently, post stem cell transplant.

Receiving a diagnosis of bone marrow failure can change a family’s life in an instant. Helping you best navigate treatment options and maintain a healthy outlook for your child and your entire family. You’re never in this alone.   

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