Children's Hospital Colorado

Bone Marrow Failure

What is bone marrow failure?

Bone marrow failure is the field of medicine that cares for patients with a failure or predisposed failure to produce red blood cells, white blood cells and platelets.

What is aplastic anemia?

Aplastic anemia is a disease in which a child's bone marrow fails to produce red blood cells, white blood cells and platelets. This is because of an empty, dysfunctional bone marrow.

What causes the bone marrow to fail?

Aplastic anemia can be caused by an inherited condition. It can also be acquired because of infection, inflammation or exposure to drugs and chemicals.

Types of inherited bone marrow failure syndromes (IBMFS) include:

  • Fanconi's anemia
  • Diamond-Blackfan anemia
  • Dyskeratosis congenita
  • Shwachman-Diamond syndrome
  • Congenital amegakaryocytic thrombocytopenia
  • Thrombocytopenia with absent radii
  • Thrombocytopenia disorders
  • Severe congenital neutropenia
  • Cyclic neutropenia
  • Pearson syndrome

However, more than half of all cases of aplastic anemia are not inherited, and no known cause such as infection or inflammation can be identified.

How does aplastic anemia affect my child?

Each part of the blood plays an important role in your child's day-to-day health:

  • While blood cells make up your child's immune system and prevent them from getting sick.
  • Red blood cells transport oxygen throughout the body and keep all organs functioning properly.
  • Platelets prevent bleeding and bruising.

A child with aplastic anemia can no longer carry out these activities and is more susceptible to infection, organ dysfunction and bleeding.

Who gets aplastic anemia?

Acquired aplastic anemia and inherited bone marrow failure syndromes commonly occur in children ages 1 to 5 and in adolescents 12 to 20 years old. It is equally common in males and females. People of Asian heritage are more likely to develop aplastic anemia.

What are the signs and symptoms of aplastic anemia?

Most children with aplastic anemia experience symptoms like:

  • Extremely pale skin
  • Infections
  • Fatigue
  • Easy bruising
  • Nose bleeds

What are signs that my child has an inherited bone marrow failure disorder?

There are several types of inherited bone marrow failure disorders, including Fanconi's anemia, Diamond-Blackfan anemia, Dyskeratosis congenital and Shwachman-Diamond syndrome.

Fanconi's anemia is a rare inherited disease of dysfunctional DNA repair. It is characterized by physical abnormalities, aplastic anemia, and an increased risk of cancer. Other symptoms include:

  • Pale skin
  • Lack of energy
  • Easy bruising
  • Nose or gum bleeds
  • Short stature
  • Thumb and arm abnormalities
  • Low birth weight
  • Small head or eyes

Diamond-Blackfan anemia (DBA) is a rare blood disorder in which the bone marrow fails to make red blood cells. Symptoms include:

  • Pale skin
  • Lack of energy
  • Short stature
  • Cleft palate
  • Thumb defects
  • Kidney or heat defects

Dyskeratosis congenital is a rare genetic disorder that affects multiple parts of the body, including the bone marrows ability to make blood cells. Symptoms include:

  • Abnormal fingernails and toenails
  • Abnormal hair thinning or greying
  • Skin pigment changes
  • Abnormal white plaques on the tongue and mouth
  • Lung disease
  • Liver disease
  • Aplastic anemia

Shwachman-Diamond syndrome is a rare genetic disorder characterized by a low number of white blood cells, poor growth due to difficulty absorbing food and skeletal abnormalities. Symptoms include:

  • Poor growth and poor absorption of nutrients
  • Pale skin
  • Lack of energy
  • Easy bruising or bleeding
  • Skeletal / boney abnormalities
  • Chronic greasy or foul-smelling diarrhea

What tests are used to diagnose aplastic anemia?

Blood tests and a bone marrow aspirate and biopsy are the tests used to diagnose aplastic anemia. From your child's blood sample, a complete blood count (CBC) will be done to count the number of red blood cells, white blood cells and platelets that are circulating in your child's blood stream. Because all or most cell numbers are low in aplastic anemia, patients usually have lower than expected CBCs.

We will also count reticulocytes, or newly formed red cells. These are usually low in children with bone marrow failure.

Bone marrow biopsy

The definitive test for aplastic anemia is a bone marrow aspirate and biopsy. The test is performed in an operating room while your child is asleep to prevent him or her from feeling pain.

During the biopsy, a special needle is used to take about a teaspoon of marrow for your child's back hip bones. The sample of marrow and bone is examined under a microscope by a hematologist (blood doctor) and pathologist (doctor who examines cells) to diagnose aplastic anemia. The procedure to obtain a bone marrow sample can be completed as an outpatient with children going home the same day and in minimal pain.

What to expect from blood and bone marrow tests

The results of CBC and reticulocyte counts are available within an hour. We'll provide supportive care immediately to make your child feel better.

Bone marrow tests can take days to a week to be fully completed.

How do providers at Children's Hospital Colorado make a diagnosis?

When a patient comes to Children's Colorado with bleeding, bruising or extreme paleness, your doctor will request a blood test for a complete blood count (CBC). If your child's testing shows a combination of low red blood cells, white blood cells and platelets, bone marrow failure is often suspected. Doctors will then recommend that your child have a bone marrow aspirate and biopsy to confirm the diagnosis.

How is aplastic anemia treated?

Treatment for children with aplastic anemia is focused on getting the body to make healthy blood cells or supplementing with blood transfusions and other medical treatments.

If the patient has a sibling who is a matched donor, a bone marrow transplant should be considered through our Bone Marrow Transplant Program.

If there is no sibling match or a transplant is not a good option, the patient will be seen by blood specialist who can discuss therapy options with the patient and family. Therapies can also include immunotherapy, which modifies the patient's immune system to protect bone marrow.

Why choose Children's Hospital Colorado for your child's bone marrow failure?

Parents choose us because:

  • Pediatric experts in our Blood and Marrow Transplant and Cellular Therapy Program have performed more than 1,000 bone marrow transplants. We've been treating children with bone marrow failure for more than 25 years, making us one of the most experienced pediatric BMT programs in the country.
  • At our Center for Cancer and Blood Disorders, we have expert blood doctors who have designed therapy regimens that are non–toxic and successful at increasing blood counts in our patients.
  • We provide personalized medical management and word towards accurate diagnosis and curative therapy.
  • We partner with genetic counselors to better understand the disease's impact on a family, including predisposition to cancer or other disorders.
  • We offer interventional clinical trials and research studies available only at limited institutions around the world. We also have a partnership with the North American Pediatric Aplastic Anemia Consortium (NAPAAC).

Bone marrow failure research at Children's Colorado

Severe aplastic anemia is rare — about 100 cases per year nationally, many with no clear cause. Collaboration, says pediatric hematologist Taizo Nakano, MD, will be key to improving outcomes. He and his team at Children's Colorado have collaborated with Boston Children's Hospital to build a biobank to study the disease.

"Already," he says, "we've identified novel gene mutations that disrupt unstudied pathways in bone marrow failure."

Through the NAPAAC — the first organization of its kind — prospective clinical trials are underway, targeting these mutations for potential new therapies. One day, Dr. Nakano hopes, they may lead to better, more personalized options for care.

Helpful resources for bone marrow failure

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