Aplastic anaemia is a rare disorder which affects the bone marrow resulting a failure to produce sufficient blood cells. The bone marrow is normally a factory which produces large numbers of red cells, white cells and platelets each day. In aplastic anaemia the patient develops severe anaemia (lack of red cells), as well as low white cells, which results in an increased risk of serious infections and low platelets which results in an increased risk of bleeding and bruising.
Aplastic anaemia occurs predominantly in younger people and is usually of an unknown cause. Aplastic anaemia in its severest forms is a life threatening condition and patients require intensive inpatient treatment in hospital to try to correct the marrow deficiency. If the patient has a brother or sister that is a match then a bone marrow transplant is usually regarded as the best form of treatment. For those patients who do not have a matched brother or sister donor then the best form of treatment normally is to use drugs to try to stimulate the bone marrow to recover. For patients who fail with this approach then a transplant from a volunteer unrelated donor is a possible form of treatment or even a transplant using umbilical cord blood cells may be considered.
Fortunately with new methods of treatment and supportive care the outlook for patients has improved but severe aplastic anaemia remains a serious disease and not all patients recover.
Professor Nigel Russell,
Centre for Clinical Haematology,
Nottingham University Hospital,
(City Hospital Campus),
What is aplastic anaemia?
Aplastic anaemia occurs when the bone marrow produces too few of all types of blood cells: red cells, white cells, and platelets. A reduced number of red blood cells causes the hemoglobin (a type of protein in the red blood cells that carries oxygen to the tissues of the body) to drop. A reduced number of white blood cells causes the patient to be susceptible to infection. A reduced number of platelets can cause the blood not to clot as easily.
What causes aplastic anaemia?
Aplastic anaemia in children has multiple causes. Some of these causes are idiopathic, meaning they occur sporadically for no known reason. Other causes are secondary, resulting from a previous illness or disorder.
Nearly 50 to 75 percent of childhood cases of aplastic anaemia occur sporadically for no known reason. Acquired causes, however, may include:
- history of specific infectious diseases such as hepatitis, Epstein-Barr virus (EBV), cytomegalovirus (CMV), parvovirus B19, or human immunodeficiency virus (HIV)
- history of taking certain medications
- exposure to certain toxins such as heavy metals
- exposure to radiation
- history of an autoimmune disease such as lupus
Children may also inherit a disorder that predisposes them to developing aplastic anaemia. Some disorders that are known to predispose a child to aplastic anaemia include the following:
- Fanconi anaemia
- dyskeratosis congenita
- Shwachman-Diamond syndrome
- reticular dysgenesis
- amegakaryocytic thrombocytopenia
- familial aplastic anaemias
What are the symptoms of aplastic anaemia?
The following are the most common symptoms of aplastic anaemia. However, each child may experience symptoms differently. Symptoms may include:
- shortness of breath
- lack of energy or tiring easily (fatigue)
- abnormal paleness or lack of color of the skin
- blood in stool
- bleeding gums
- sinus tenderness
- enlarged liver or spleen
- oral thrush (white patches on a red, moist, swollen surface, occurring anywhere in the mouth)
The symptoms of aplastic anaemia may resemble other blood disorders or medical problems. Always consult your child's physician for a diagnosis.
How is aplastic anaemia diagnosed?
In addition to a complete medical history and physical examination of your child, diagnostic procedures for aplastic anaemia may include:
- blood tests
- bone marrow aspiration and/or biopsy - a procedure that involves taking a small amount of bone marrow fluid (aspiration) and/or solid bone marrow tissue (called a core biopsy), usually from the hip bones, to be examined for the number, size, and maturity of blood cells and/or abnormal cells.
Treatment for aplastic anaemia:
Specific treatment for aplastic anaemia will be determined by your child's physician based on:
- your child's age, overall health, and medical history
- the extent of the anaemia
- cause of the anaemia
- your child's tolerance for specific medications, procedures, or therapies
- expectations for the course of the anaemia
- your opinion or preference
Aplastic anaemia is a serious illness and treatment usually depends on the underlying cause. For certain causes, recovery can be expected after treatment, however, relapses can occur. To treat the low blood counts, initially treatment is usually supportive, meaning that it is necessary to treat the symptoms but not possible to cure the disease. Supportive therapy may include:
- blood transfusion (both red blood cells and platelets)
- preventative antibiotic therapy
- meticulous handwashing
- special care to food preparation (such as only eating cooked foods)
- medications (to stimulate the bone marrow to produce cells)
- immunosuppressive therapy
Preventing infection and/or bleeding:
Activities which put children with aplastic anaemia at risk for infection or bleeding should be avoided. These activities include the following:
- dental work (until your child's white blood cell counts rise)
- contact sports (i.e., football, hockey, skiing, or rollerblading)
- traveling to high altitudes (children with a low red blood cell count will have increased fatigue and need for oxygen in high altitudes)
If a child has a relapse of aplastic anaemia, additional treatment (including a possible bone marrow transplant) may be necessary.