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Bone marrow—a spongy tissue found in most bones—is the starting place for the blood cells your body needs to transport nutrients and oxygen throughout your body. Bone marrow failure, which occurs when something interferes with blood cell production, can cause significant health problems, including a condition called aplastic anemia.
What is aplastic anemia?
Aplastic anemia is a condition in which a person’s bone marrow cannot make the blood cells it needs to perform important functions, such as controlling infections and repairing tissue after an injury (Moore, 2021). When bone marrow can’t produce enough red blood cells, the body can’t effectively transport oxygen, resulting in anemia symptoms (Moore, 2021).
While aplastic anemia is rare, blood cell abnormalities can be life-threatening (Wang, 2019). People with aplastic anemia can experience serious complications along with typical anemia symptoms.
In general, anemia can cause symptoms including weakness, tiredness, shortness of breath, and lethargy (Turner, 2021). Common symptoms of aplastic anemia include (Moore, 2021):
- Pallor (paleness)
- Dyspnea (difficult or labored breathing)
- Increased susceptibility to infection
- Unexplained bruising
- Petechiae (tiny brown or purple spots due to bleeding under the skin)
In some cases, those with aplastic anemia may develop other medical conditions, such as leukemia, a type of blood and bone marrow cancer that affects white blood cells (Čermák, 2018).
What causes aplastic anemia?
Aplastic anemia is caused by a failure of bone marrow to produce ample blood cells (Moore, 2021). But the specific cause of aplastic anemia can vary from person to person.
It can be either hereditary or acquired. 65% of aplastic anemia cases are idiopathic. Idiopathic aplastic anemia occurs spontaneously, without a hereditary cause (Moore, 2021).
People can develop aplastic anemia at any time in life, often resulting from immune system activity. For example, environmental exposures to chemicals, drugs, and viral infections such as hepatitis can trigger acquired aplastic anemia (Moore, 2021).
While there are many potential causes for aplastic anemia, sometimes, a cause is never identified (Moore, 2021).
Common symptoms for each type of anemia
Aplastic anemia can be mild, moderate, or severe. There are two primary types: hereditary aplastic anemia and acquired aplastic anemia.
Hereditary aplastic anemia
Hereditary aplastic anemia is a genetic condition people are born with. The most common hereditary cause of aplastic anemia is Fanconi anemia (Moore, 2021). Fanconi anemia is a rare genetic disorder that results in bone marrow failure, and lower-than-normal blood cell counts. 75% of people born with Fanconi anemia also have congenital disabilities (Bhandari, 2021).
Acquired aplastic anemia
Acquired aplastic anemia simply means that no genetic cause was found. Scientists don’t know the exact mechanism for how it occurs, but it is believed to be due to abnormal activation of the immune system. Immune system cells attack hematopoietic stem cells (immature cells that develop into any type of blood cell) found in the bone marrow (Schoettler, 2018). This leads to a shortage of red blood cells in the body.
Aplastic anemia can occur in anyone at any age (Peslak, 2017). Certain factors make a person more likely to have it. For example, children and 20–25-year-old adults experience aplastic anemia at a higher incidence (Moore, 2021).
Certain prescription drugs can also heighten a person’s risk. Chloramphenicol, an antibiotic, has been associated with aplastic anemia (Oong, 2021); so are medications used to treat rheumatoid arthritis, malaria, and seizures (Al Qahtani, 2018).
Viral infections—such as hepatitis, which is responsible for 5–10% of cases—sometimes result in immune system activity that results in bone marrow failure (Moore, 2021). The same can be true for exposure to toxic chemicals, such as arsenic (Al Qahtani, 2018).
When a healthcare provider suspects aplastic anemia, they’ll review the person’s symptoms and medical history and run blood tests like a complete blood count (CBC).
A complete blood count (CBC) may show an abnormal red blood cell, white blood cell, or platelet count. To confirm the diagnosis, they will order a bone marrow biopsy to identify a decreased number of blood cells in the marrow (Moore, 2021).
Iron-deficiency anemia: symptoms, causes, treatments
Because untreated disease can cause life-threatening complications, treating aplastic anemia is important (Moore, 2021).
In people diagnosed with aplastic anemia, healthcare providers often focus on treating the underlying cause. (Moore, 2021).
If a healthcare professional can’t find the cause, the treatment depends on factors such as age, the severity of the disease, and bone marrow donor availability (Moore, 2021).
One potential treatment is stem cell transplantation (also known as bone marrow transplantation). Transplants are associated with a low risk of disease relapse (Georges, 2018). The five-year survival is more than 75% in patients who receive transplants from suitable donors (Moore, 2021).
Other patients take medications to prevent the destruction of blood cells and help the bone marrow create new ones. This is known as immunosuppressive therapy. Blood transfusions may also be necessary for replenishing the blood supply in people with low platelets or hemoglobin (Moore, 2021).
If you have symptoms of aplastic anemia, talk to your healthcare provider, who can help diagnose the condition and determine the best course of treatment. While aplastic anemia can cause serious complications in some people, if a healthcare provider identifies the cause, the odds of recovery—and, as a result, living a normal life—are good (Moore, 2021).
- Al Qahtani, S. A. (2018). Drug-induced megaloblastic, aplastic, and hemolytic anemias: current concepts of pathophysiology and treatment. International Journal of Clinical and Experimental Medicine, 11(6), 5501-5512. Retrieved from http://www.ijcem.com/files/ijcem0068128.pdf
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- Schoettler, M. L., & Nathan, D. G. (2018). The pathophysiology of acquired aplastic anemia: current concepts revisited. Hematology/Oncology clinics of North America, 32(4), 581–594. doi:10.1016/j.hoc.2018.03.001. Retrieved from https://pubmed.ncbi.nlm.nih.gov/30047412/.
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Felix Gussone is a physician, health journalist and a Manager, Medical Content & Education at Ro.