Aplastic Anemia: Symptoms, Causes, Diagnosis & Treatment

Aplastic anemia is a rare and serious blood disorder ^2,3. It stops bone marrow from making enough new blood cells ².

Bone marrow is the soft tissue inside bones that produces blood cells. Damage can lower red cells, white cells, and platelets ².

This bone marrow failure may cause anemia, infection, or bleeding ^2,5. It may develop quickly or slowly ^2,3. An abnormal blood test may detect it before symptoms appear.

Early care matters because severe disease can threaten life ^5,6. This guide explains its warning signs, causes, tests, and treatment choices.

This condition is more than a low red blood cell count ². It can reduce all three main blood cell groups ².

Pancytopenia means low red cells, white cells, and platelets. Affected marrow is often hypocellular, meaning it has too few blood-forming cells.

Healthy marrow contains blood-forming stem cells ². Stem cells are young cells that develop into several blood cell types ².

The three main cell groups have separate jobs:

Damage to stem cells limits the supply of new blood cells ^2,10. Symptoms may accompany very low levels of one or more types of blood cells in severe aplastic anemia ⁶.

For broader details, read our guide to anemia symptoms and treatment.

The disorder begins when stem cells inside the marrow become damaged ^2,3. These stem cells normally produce several blood cell types ².

Symptoms of aplastic anemia can include fatigue and shortness of breath during activity ^3,6. Low white cells make it harder to fight infection ^1,2. Low platelet counts may occur in aplastic anemia, which can also cause easy bruising or bleeding ^2,5.

This mix explains why symptoms can vary widely ⁶. One person may notice fatigue, while another may first develop bleeding or infection ^5,6.

The disorder may be mild, moderate, severe, or very severe ^3,6,7. Care urgency depends on blood counts and the person’s condition.

Mild or moderate disease may not need treatment right away ¹. Doctors may check blood counts and watch for changes ^1,9.

Severe disease can threaten life and may require immediate hospital care ^6,8. Specialists also consider very severe disease when choosing care.

Doctors do not base treatment on one symptom alone ¹. They consider severity, age, general health, possible causes, and donor options ¹.

Symptoms depend on the types of blood cells affected ⁶. They may be mild, severe, or absent ^9,10.

Many common illnesses can cause similar symptoms. Medical tests are needed to find the cause ⁶.

Red blood cells carry oxygen around the body ². Low levels may reduce the oxygen reaching tissues ^2,5.

Possible anemia symptoms include:

Untreated disease may contribute to an abnormal heart rhythm ^2,3. It may also lead to an enlarged heart or heart failure ³.

These symptoms do not prove that bone marrow has failed. Medical tests may help a clinician find the cause of tiredness ⁶.

White blood cells help the body fight germs and disease ². Low levels can make infections harder to control ^1,2.

Possible infection signs include:

Severe loss of these cells raises the risk of bacterial infections. It can also increase the risk of invasive fungal infections.

Platelets help the blood form clots ². Low levels can cause bruising or bleeding ^2,5.

Possible warning signs include:

If you have a fever, contact a healthcare professional right away ⁶. Low white blood cell counts can make it harder for the body to fight infections ^1,8.

The condition can develop after birth or pass through genes ⁶. Acquired disease is more common than an inherited form ⁶.

Acquired disease often involves an abnormal immune response ^2,6. The immune system attacks blood-forming stem cells in the marrow ².

The immune system may not be the only trigger for aplastic anemia ^6,10. This is known as idiopathic disease, meaning its cause is unknown ^3,6.

An autoimmune disorder may also harm marrow stem cells ⁹. Autoimmune disorders cause the immune system to attack healthy cells.

Some medical treatments can damage marrow stem cells ⁹. Chemotherapy may harm healthy marrow while it treats cancer ^3,10. Radiation therapy may also reduce blood cell production ^3,10.

Some prescription medicines have links with marrow failure ^2,3. These include certain antibiotics and some medicines for rheumatoid arthritis.

Never stop a prescribed medicine on your own. A healthcare professional should decide whether to change the treatment ⁹.

Several toxic substances have also been linked with the disorder ^3,10. These include benzene, arsenic, pesticides, and some insecticides ^3,10.

The care team may recommend avoiding a suspected chemical ¹. Avoiding repeat exposure may allow some toxin-related cases to improve.

Some viral infections have links with marrow failure ^3,10. Examples include hepatitis, Epstein-Barr virus, and HIV ^3,10.

Other linked viruses include cytomegalovirus and parvovirus B19. The immune response to a virus may damage blood-forming cells.

Pregnancy has a rare link with the condition ^3,10. Some pregnancy-related cases improve after the pregnancy ends. Treatment is still needed when blood counts do not recover.

Rare gene changes can cause inherited marrow failure ^2,3. Fanconi anemia is a common inherited cause.

Fanconi anemia may start during childhood. It may involve low blood counts, short height, or unusual bone growth.

Some affected children have an absent thumb or an unusual forearm bone. Others may have organs that did not fully develop.

Age at onset can guide the medical investigation. Birth differences and family blood disorders can also suggest an inherited cause.

Doctors may use genetic tests when they suspect an inherited disorder ^5,9. Siblings may need testing after inherited disease is found ⁶.

Diagnosis starts with a health history, examination, and blood tests ^3,5. A bone marrow biopsy confirms the diagnosis.

The clinician will ask about symptoms linked with low blood counts. These may include fatigue, infections, bruising, or bleeding.

The discussion may cover several possible causes:

The physical examination may reveal pale skin, jaundice, or bleeding. These findings help show how ill the person is. A physical examination is not the only step in diagnosing aplastic anemia ^3,5.

A complete blood count is also known as a CBC ^8,9. It measures red cells, white cells, and platelets.

All three cell groups may be low with this disorder. A CBC with differential also measures each type of white blood cell ⁹.

This test checks the numbers of different types of white blood cells ^5,9. Blood tests alone do not confirm the disorder.

Other diseases and treatments may also lower blood cell levels. This is why marrow testing remains important.

Reticulocytes are young red blood cells ⁹. A reticulocyte count measures these cells in the blood ⁹.

The result helps assess new red blood cell production ⁹. Low production may point toward damage within the marrow ^2,9.

A peripheral blood smear checks blood under a microscope ⁹. Blood cell and platelet counts may be low in aplastic anemia ⁹.

These tests provide useful clues. However, they do not replace a marrow biopsy.

A marrow aspiration removes a small amount of liquid marrow. The clinician uses a thin needle for this procedure.

A biopsy removes a small piece of bone and marrow. Clinicians often perform both procedures together.

The sample often comes from the back of the hipbone. A specialist then examines it under a microscope.

Affected marrow contains fewer blood cells than normal. This finding helps confirm the disorder. It also helps rule out other blood diseases.

After diagnosis, more tests may help find the cause. Genetic testing may look for inherited marrow failure syndromes ⁴.

The care team may consider viral infections as possible causes ^3,5. These include hepatitis, Epstein-Barr virus, and HIV ³.

Doctors may also check for paroxysmal nocturnal hemoglobinuria. This rare blood disorder causes red cells to break down too early. It can occur with marrow failure or develop later.

Treatment depends on severity, age, symptoms, and general health ^1,8. The possible cause and donor options also guide care ¹.

A hematologist is a doctor who treats blood disorders. This specialist can explain the benefits and risks of each choice.

Mild disease may not need treatment right away ¹. A clinician may review symptoms and blood cell counts to guide treatment decisions ^1,9.

Treatment may start if symptoms appear or blood counts become worse ⁹. Severe disease needs much faster care.

When a trigger is suspected, the care team may remove it ¹. This can mean avoiding a chemical or changing a medicine ¹. Treatment may also target a linked viral infection ¹.

Blood transfusions replace cells that the marrow cannot make ^1,8. They may relieve symptoms but do not repair damaged marrow.

Supportive transfusions may include these options:

Excess iron can damage organs if it is not treated ^1,8. Repeated transfusions may also lead to antibodies against donated cells ^1,8.

Those antibodies can make later transfusions less effective. Treatment may also focus on preventing bleeding and infections ^1,8.

Antibiotics may treat bacterial infections when white cells are low ¹. Other medicines may be used to treat or prevent infections ¹. High-risk patients may also receive medicines to prevent infection.

Immune-suppressing medicines reduce attacks on marrow stem cells ^1,8. This may help the marrow make more blood cells.

Antithymocyte globulin is often shortened to ATG ¹. ATG and cyclosporine are common immune-suppressing treatments ^1,8. Doctors often use these medicines together.

This approach may help people who cannot receive a transplant ¹. It may also control disease while a person awaits transplant ¹.

Eltrombopag may be added for selected patients ¹. It may help increase blood cell production ¹.

Other growth medicines may stimulate certain blood cell types. The chosen medicine depends on the treatment plan.

Immune-suppressing medicines can further weaken infection defenses. Care teams may use infection prevention for patients at high risk.

The disease may return after these medicines stop. Blood counts are checked during evaluation for aplastic anemia ^2,8.

An allogeneic transplant uses stem cells from another person ¹. The healthy cells replace damaged stem cells and begin making blood cells ^1,8.

This transplant is the only treatment that may fully overcome the disorder ^1,9. However, it is not suitable for every patient.

A close donor match can improve the chance of a good outcome ¹. Siblings are more likely to match, but unrelated donors may also match ¹.

Doctors may favor transplant for younger people with a close match. Decisions also consider health, disease severity, and donor availability ¹.

A transplant can cause serious complications. The body may reject the donated stem cells.

Graft-versus-host disease is another transplant complication ⁹. It occurs when donor cells attack the recipient’s tissues. Possible signs include rash, diarrhea, nausea, or vomiting ⁹.

Important long-term concerns include:

Evaluation can include blood cell tests and an assessment of symptoms ^2,9. Doctors also screen for other blood disorders on a regular basis ^2,3.

If unexplained symptoms last for weeks, arrange a medical assessment ⁹. Examples include fatigue, bruising, bleeding, breathlessness, or frequent infections ^3,6,9.

If blood tests show low cell counts, ask your doctor whether further evaluation is needed. A clinician may recommend more blood tests and a marrow biopsy.

If you have a fever, contact a healthcare professional right away ⁶. If bleeding will not stop, contact a healthcare professional right away ⁶.

This disorder is bone marrow failure, not only anemia ². It can lower red cells, white cells, and platelets together ^2,5.

Early diagnosis matters because infection and bleeding can become severe. Blood tests find low counts, while a marrow biopsy confirms the condition.

Treatment may include monitoring, trigger removal, transfusions, or medicines ^1,8. A donor stem cell transplant may also be an option ^1,8.

Anyone with concerning symptoms or abnormal blood counts needs medical assessment. A hematology team can build a plan around each person’s needs ¹.