Aplastic anemia

Overview

Aplastic anemia is a bone marrow disorder in which the stem cells get damaged and don’t develop into needed blood cells. Aplastic anemia can develop at any age, in any race or gender — though it is diagnosed more frequently in:

  • Children
  • Young adults and the elderly
  • Asian-Americans

Aplastic anemia can slowly emerge or strike at once, leading to problems that range from moderate to severe. If untreated, the lack of replacement blood cells can cause irregular heartbeats (arrhythmias), heart enlargement, heart failure, infections and bleeding. Severe aplastic anemia can even cause death.

Our approach

The team at the Hematologic Oncology Center, part of Northwell Health Cancer Institute, is optimistic about aplastic anemia. The rare condition once meant a poor prognosis, but is now one of the most treatable blood disorders. The doctors at the center have helped lead the way with their experience and research.

The Hematologic Oncology Center is the only program in the New York-Long Island area with a particular focus on aplastic anemia. While many hematologists have never cared for the disorder, the team has successfully treated several hundred patients. The center also offers the only bone marrow transplant program in Long Island, Queens or Brooklyn that is accredited by the Foundation for the Accreditation of Cellular Therapy (FACT). 

The experience and research of the doctors has given them the expertise required for diagnosing aplastic anemia and related disorders. They have successfully cared for patients with the even more rare genetic form of the disorder, and they can quickly distinguish between bone marrow failure and less serious causes of anemia.

Aplastic Anemia Team Approach

The experienced team members at the Hematologic Oncology Center work together to treat aplastic anemia and other disorders. Each case is unique, so the team meets regularly to discuss diagnosis and treatment, ensuring that each patient receives the best care and recommendations. 

Risk factors

Most researchers believe aplastic anemia is caused by the body’s immune system attacking its own stem cells, making it an autoimmune disease. Sometimes the disorder is temporary, and sometimes it becomes permanent without treatment.

While aplastic anemia is rare, getting it through a parents’ genes (inherited aplastic anemia) is even more unusual. It’s more likely to show up on its own (acquired aplastic anemia), though for the majority of such patients the cause is never discovered. For others, the damage may come from:

  • Toxins like pesticides, arsenic and benzene
  • Radiation and chemotherapy to treat cancer
  • Treatments for other autoimmune diseases like lupus and rheumatoid arthritis
  • Pregnancy (sometimes improving after the patient gives birth) 

Symptoms

Aplastic anemia symptoms are tied to the type of blood cells the body lacks:

  • Red Blood Cells – Fatigue and tiredness
  • White Blood Cells – Susceptibility to infection
  • Platelets – Bleeding problems and bruising

Just because someone have these symptoms doesn’t necessarily mean they have aplastic anemia. A doctor can determine what is causing these symptoms.

Diagnosis

Diagnosis of aplastic anemia mainly comes from blood tests:

  • Complete Blood Count (CBC) – The CBC measures the number of red blood cells, white blood cells and platelets
  • Other tests – A doctor might test for low levels of other blood cell-boosting substances. These substances could point to a cause of anemia rather than damaged bone marrow and could include:
    • EPO (erythropoietin), a protein from the kidneys
    • Iron
    • Vitamin B-12 and folate

A doctor may also recommend taking a bone marrow biopsy of the hipbone. 

Aplastic anemia and paroxysmal nocturnal hemoglobinuria (PNH)

Some patients with aplastic anemia also get another rare, life-threatening blood disorder called paroxysmal nocturnal hemoglobinuria (PNH). 

PNH is caused by a genetic mutation in stem cells, leading to the creation of red blood cells that lack a protective protein and are destroyed by the body’s immune system. Many researchers believe that happens because the bone marrow has been weakened by aplastic anemia or another disorder. Patients with PNH face a greater risk of thrombosis (blood clots).

PNH symptoms

When PNH causes red blood cells to break apart (hemolysis), the hemoglobin that carries oxygen is released. While some patients don’t experience any symptoms, in other cases the disorder can cause:

  • Darker urine 
  • Fatigue
  • Headaches
  • Trouble breathing during exercise
  • Irregular heartbeat
  • Blood clots

The hemoglobin can also take away nitric oxide, the substance that keeps muscle smooth and relaxed. That can lead to:

  • Mild to severe pain in the abdomen or belly
  • Spasms in the esophagus, making it hard to swallow.
  • Impotence

PNH diagnosis

To diagnose PNH, a doctor will most likely recommend a flow cytometry test to detect red blood cells missing protection from the immune system. Northwell Health offers the more advanced FLAER (fluorescein-labeled proaerolysin) test.

Other PNH tests include:

  • CBC (complete blood count)
  • Bone marrow biopsy
  • Checks for iron levels, bilirubin (a pigment), the enzyme LDH (lactate dehydrogenase) or young red blood cells

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