What is aplastic anemia?
Aplastic anemia occurs when the bone marrow produces too few platelets, leading to a decrease in hemoglobin and symptoms of fatigue. A reduced number of a major type of white blood cell important for defense against bacterial and fungal infections, called neutrophils, increases susceptibility to infection. Too few platelets leads to increased risk of bleeding or bruising.
The role of bone marrow in aplastic anemia
Bone marrow produces all blood cells: red blood cells, white blood cells, and platelets.
- Red blood cells contain a protein called hemoglobin that carries oxygen from the lungs to tissues.
- White blood cells fight infection.
- Platelets are important for blood to clot.
Aplastic Anemia | Symptoms & Causes
What are the symptoms of aplastic anemia?
Each child may experience symptoms differently, but the most common symptoms of aplastic anemia are:
- lack of energy or tiring easily
- pale skin, lips, and hands, or paleness under the eyelids
- shortness of breath
- fevers or infections bleeding, such as bruising, bleeding gums, nosebleeds, or blood in the stool
- irregular heartbeat
- dizziness or headache
It is important to understand that some symptoms of anemia may resemble those of other more common medical problems or other blood disorders. Because some of these symptoms can also point to other conditions, and because anemia itself can be a symptom of another medical problem, it’s important to have your child evaluated by a qualified medical professional for an accurate diagnosis and prompt treatment.
What causes aplastic anemia?
Aplastic anemia in children has multiple causes. Usually it is “idiopathic,” occurring with no known reason. It also can be the result of a previous illness, existing problems, or can be caused by an inherited genetic disorder.
About 80 to 85 percent of cases of aplastic anemia in children are acquired and may include a history of:
- specific infectious diseases, such as hepatitis, Epstein-Barr virus, or cytomegalovirus
- taking certain medications, including some antibiotics and arthritis drugs
- exposure to certain toxins, such as benzene, pesticides, and insecticides
- exposure to radiation or chemotherapy
In 15 to 20 percent of cases, children inherit a disorder that predisposes them to developing aplastic anemia such as:
- Fanconi anemia
- dyskeratosis congenita
- Shwachman-Diamond syndrome
- amegakaryocytic thrombocytopenia
Aplastic Anemia | Diagnosis & Treatments
How is aplastic anemia diagnosed?
In addition to a complete medical history and physical examination, aplastic anemia can only be diagnosed accurately by a full evaluation of the blood and bone marrow, which includes some or all of the following tests:
A complete blood count (CBC) can help your child’s doctor to understand the cause of the anemia. In aplastic anemia, this test shows an abnormally low number of all blood cells.
- Samples of the fluid (aspiration) and solid (biopsy) portions of bone marrow are withdrawn by needle under local or general anesthesia. This allows your child’s doctor to look for marrow abnormalities. This test is necessary to make a definitive diagnosis of aplastic anemia.
- Additional blood tests and genetic testing may be ordered to rule out certain inherited types of anemia and other disorders, such as myelodysplastic syndrome.
After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then, we meet with you and your family to discuss the results and outline the best treatment options for your child’s aplastic anemia.
How is aplastic anemia treated?
Specific treatment for aplastic anemia will be determined by your child’s physician based on your child’s age and overall health, the extent of their condition, and tolerance for specific medications and therapies.
Stem cell (bone marrow) transplant
Presently, this is the only cure for aplastic anemia. Bone marrow transplant involves the replacement of diseased bone marrow with another person’s healthy bone marrow. Unfortunately it may not be an option for everyone. The success of a transplant depends on many factors, such as how close the match is between child and donor, and the patient's age. If the child has a sibling, there is a one in four chance they will be a donor match. The degree to which your child's bone marrow has failed also factors into the discussion whether to pursue a transplant. The decision to proceed with bone marrow transplant should be discussed with your child’s hematologist and a stem cell transplant team.
This is the standard drug therapy for aplastic anemia and is based on the theory that aplastic anemia is caused by the immune system reacting against the bone marrow. Immunosuppressive drugs “suppress” the immune response and allow the bone marrow to make blood again. The drugs used, anti-thymocyte globulin (ATG) and cyclosporine (CsA), may also have other effects that allow the bone marrow to make blood effectively again. ATG/CsA therapy for aplastic anemia is not a fast process and can take three to six months for the treatment to have an effect. During that time, your child will need frequent supportive care, such as red blood cell or platelet transfusions and antibiotics. Children with aplastic anemia treated with immunosuppressive therapy also need life-long follow-up care from a hematologist.
Treating an underlying disorder
In rare cases aplastic anemia is caused from a previous illness or disorder. If this problem can be identified and treated, there are cases in which the aplastic anemia will improve. Additional treatment alternatives are currently being studied and may be available through clinical trials.
In addition to treatment, supportive care helps the symptoms of aplastic anemia (fatigue, bleeding, infections, etc.). Examples include blood transfusions (both red cells and platelets), preventative antibiotic therapy, medications that stimulate the body to make more white blood cells, and behavioral interventions like thorough hand washing and avoiding large crowds or people who are known to have fevers or illness.
How we care for aplastic anemia
Children and young adults with aplastic anemia are treated at The Bone Marrow Failure and Myelodysplastic Syndrome (MDS) Program at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, recognized as one of the nation’s best pediatric treatment and research programs for bone marrow failure and related conditions. Our patients have access to advanced treatments and diagnosis, including DNA mutation identification and ongoing clinical trials investigating new treatments. Dana-Farber/Boston Children's is also home to one of the largest and most experienced pediatric stem cell transplant centers in the world. Stem cell (bone marrow) transplant is currently the only cure for aplastic anemia.
Aplastic Anemia | Research & Innovation
Our areas of research
In addition to providing information and access to local and national research initiatives, our clinic offers multidisciplinary care and consultative services for patients with inherited and acquired bone marrow failure syndromes, including aplastic anemia.
Our researchers are actively collecting samples of blood and bone marrow from volunteer patients with aplastic anemia and other bone marrow failure syndromes in order to better understand genetic and molecular aspects of the diseases, and clinical outcomes of patients.
Aplastic Anemia & MDS International Foundation Inc.
This foundation, formed in 1983 by concerned parents and medical professionals, maintains a patient registry of children, adolescents, and adults with aplastic anemia. Enrollment is voluntary and serves to help researchers compile data about the disease.