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Aplastic anaemia is a rare blood disorder in which the bone marrow does not produce adequate new blood cells. This happens when the stem cells in the bone marrow are damaged. As a result, the patient feels tired and has a weak immune system. Moreover, controlling bleeding in such patients becomes difficult.
Aplastic anaemia can affect anybody and at any age. Aplastic anaemia develops suddenly or slowly and worsens as time passes. The severity of aplastic anaemia ranges from mild to severe. Its treatment includes taking medicines or blood transfusions. The last resort is to get a stem cell transplant in which the bone marrow is transplanted with a new one taken from a donor.
Aplastic anaemia is of two types:
Aplastic anaemia has no clinical symptoms. However, if they at all appear, they include the following:
The prevalence of aplastic anaemia is unpredictable. It may be short-lived or become chronic, severe and even fatal.
Stem cells produce different varieties of blood cells, such as red blood cells, white blood cells and platelets. However, these blood cells become aplastic (empty) or hypoplastic (few blood cells present) in aplastic anaemia. The occurrence of aplastic anaemia has been linked to being autoimmune in nature. This means that the body's immune cells attack the stem cells in the bone marrow. Some other factors associated with the development of aplastic anaemia are:
The following tests help diagnose aplastic anaemia:
Further testing may be carried out to determine the exact cause of the disease.
The treatment for aplastic anaemia depends upon the severity of the condition, the patient's age, and tolerance to the treatment modality. Severe aplastic anaemia cases are life-threatening and require hospitalization. The treatment options are:
Blood transfusions don't cure aplastic anaemia but rather help control bleeding and provide symptomatic relief. Blood transfusions allow the transfusion of red blood cells and platelets. The red blood cells raise the RBC count. As a result, a reduction in fatigue is observed. On the other hand, platelet transfusion helps prevent uncontrolled bleeding.
Unlimited transfusions can be done to improve the condition of patients with aplastic anaemia. However, multiple transfusions often cause complications. This is because transfused red blood cells contain iron. There is always a risk of this iron being accumulated in the body and damaging vital organs. To prevent such an incidence, medicines to reduce iron overload are prescribed.
In some cases, with time, the body produces antibodies against the transfused blood. As a result, the transfused blood becomes less effective in providing symptomatic relief. However, immunosuppressant drugs often eliminate this issue.
A stem cell transplant requires the replacement of diseased bone marrow with a healthy donor's bone marrow. This permits the rebuilding of the bone marrow stem cells and has shown great success for people with aplastic anaemia. In addition, a stem cell transplant, also called a bone marrow transplant, is generally the treatment of choice for younger patients with a matching donor. The donors are often siblings of the patients.
First, the recipient's bone marrow is irradiated with chemotherapy or radiation therapy. Then, healthy stem cells from the donor are filtered from the blood. Next, into the bloodstream, doctors inject healthy stem cells. From here, the cells reach the bone marrow and start multiplying. This procedure requires a considerable length of hospital stay. Finally, immunosuppressants are prescribed for a lifetime to prevent the chances of rejection of donated stem cells.
The transplant procedure carries some risks, such as the rejection of the donated cells, which may have life-threatening complications. Moreover, finding a suitable donor for a transplant is not easy.
Immunosuppressants are drugs that prevent the immune system from functioning. It is often prescribed to patients with severe aplastic anaemia and to those who cannot undergo a transplant due to pre-existing autoimmune conditions.
Medicines such as cyclosporine (Gengraf, Neoral, Sandimmune) and anti-thymocyte globulin suppress the immune cell activity that damages the bone marrow. However, it allows the bone marrow to repair itself and produce new blood cells. Therefore, these two drugs are often prescribed together. In addition, corticosteroids, like methylprednisolone, are also administered. These drugs weaken the body's defence system and prevent it from attacking the bone marrow.
Certain drugs, such as colony-stimulating factors (for example, sargramostim, filgrastim and pegfilgrastim), stimulate the bone marrow. On stimulation, the bone marrow produces new blood cells. In addition, growth factors enhance the function of immune-suppressing drugs that are prescribed concomitantly.
Aplastic anaemia weakens the immune system, and thus, people with this disorder are more prone to infections. It is thus important to consult the treating doctor in case any signs of infection become evident, such as fever or pus discharge. Infections in immunocompromised individuals are life-threatening. Therefore, infections need to be addressed as a priority.
Aplastic anaemia that occurs due to radiation and chemotherapy treatments for cancer often resolves on its own once the treatment stops. The same is applicable to medicines that cause aplastic anaemia.
Pregnant women with aplastic anaemia are treated with blood transfusions. For many women, pregnancy-related aplastic anaemia improves once the pregnancy ends. However, if that doesn't happen, treatment is still necessary.
Aplastic anaemia is often associated with complications. Some of which include:
Some factors that may contribute to the development of aplastic anaemia are:
Reviewed by Dr. Rayaz Ahmed, Director, Cancer Care / Oncology, Bone Marrow Transplant, Hematology Oncology, Medical Oncology, Hematology, Paediatric (Ped)/Medical Oncology on 13-Jan-2023.
What is aplastic anaemia?
Aplastic Anaemia is a rare bone marrow disorder characterised by a decrease in the production of red blood cells, white blood cells, and platelets.
What causes aplastic anaemia?
Most cases are idiopathic, meaning the cause is unknown. However, it can be triggered by exposure to toxins, certain medications, viral infections, or autoimmune reactions.
What are the common symptoms of aplastic anaemia?
Fatigue, weakness, frequent infections, bleeding, and bruising are common symptoms due to low blood cell counts.
How is aplastic anaemia diagnosed?
Blood tests, bone marrow aspiration, and biopsy are performed to evaluate blood cell counts and bone marrow cellularity.
Is aplastic anaemia genetic?
In most cases, it is acquired, not inherited. However, there are rare familial forms linked to specific gene mutations.
Can aplastic anaemia be prevented?
Prevention is challenging due to its idiopathic nature. Avoiding exposure to toxins and radiation can reduce the risk in some cases.
What age group is most affected by aplastic anaemia?
Aplastic Anemia can affect individuals of any age, but it's more common in young adults and older adults.
How is aplastic anaemia treated?
Treatment options include supportive care (blood and platelet transfusions), immunosuppressive therapy, and stem cell transplantation.
What is immunosuppressive therapy?
It involves medications like antithymocyte globulin (ATG) and cyclosporine to suppress the immune system and halt the destruction of bone marrow cells.
Are there risks associated with stem cell transplantation?
Yes, potential risks include graft-versus-host disease, infection, and complications from immunosuppressive drugs, but still, it is the most effective way to cure the disease.
Can aplastic anaemia relapse after successful treatment?
Yes, there is a chance of relapse, especially after immunosuppressive therapy.
How long does it take to recover from aplastic anaemia?
Recovery time varies from person to person and depends on the severity of the condition and the treatment response. The earliest recovery that is within a month in bone marrow transplant. Immunosuppressive therapy with ATG takes 6-12 weeks, but oral immunosuppressive therapy takes months with very poor success rates,
Is there a cure for aplastic anaemia?
For many patients, a stem cell transplant can provide a cure, but not all patients are suitable candidates.
Can aplastic anaemia transform into leukaemia?
In some cases, Aplastic Anemia can progress to myelodysplastic syndrome (MDS) or acute myeloid leukaemia (AML).
What precautions should aplastic anaemia patients take?
Patients should avoid exposure to infections, maintain good hygiene, and follow the doctor's advice on activity restrictions.
Can pregnancy worsen aplastic anaemia?
Pregnancy can put additional strain on the body and may exacerbate anaemia. It requires careful monitoring by healthcare professionals.
Is there ongoing research on aplastic anaemia?
Yes, research is continuously conducted to better understand the condition and develop improved treatments.
Where can patients find support for aplastic anaemia?
There are patient support groups and organisations that offer information, resources, and emotional support for individuals with Aplastic Anemia and their families.
FAQs reviewed by Dr. Faran Naim, Consultant - Hematology & Bone Marrow Transplantation.
Max Healthcare is home to 4800+ eminent doctors in the world, most of whom are pioneers in their respective fields. Additionally, they are renowned for developing innovative and revolutionary clinical procedures.
Max Healthcare is home to 4800+ eminent doctors in the world, most of whom are pioneers in their respective fields. Additionally, they are renowned for developing innovative and revolutionary clinical procedures.
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