Rare Pulmonology News

Disease Profile

Aplastic anemia

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 1 000 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Anemia aplastic; Aplastic anemia idiopathic; Idiopathic aplastic anemia;


Blood Diseases


Aplastic anemia is a blood disorder caused by failure of the bone marrow to make enough new blood cells. Bone marrow is a sponge-like tissue inside the bones that makes stem cells that develop into red blood cells, white blood cells, and platelets.[1] Symptoms may include fatigue, weakness, dizziness, shortness of breath, frequent infections, and bleeding. Aplastic anemia can lead to other health concerns such as an irregular heartbeat, an enlarged heart, and heart failure. It can be caused by injury to blood stem cells due to exposure to certain drugs, chemotherapy, congenital disorders, drug therapy to suppress the immune system, pregnancy, radiation therapy, or toxins such as benzene or arsenic. When the cause is unknown, it is referred to as idiopathic aplastic anemia. In about half of all cases, no cause can be found. The blood disorder can be acute or chronic.[2] Treatment may consist of supportive care only, blood transfusions, medicines to suppress the immune system, or hematopoietic cell transplantation.[3]


The symptoms of aplastic anemia vary depending on how severe it is and how low blood counts are. Signs and symptoms may include:[2][3][4]

  • Low numbers of red blood cells (anemia): May cause paleness (pallor), headache, palpitations, rapid heart rate, feeling out of breath, fatigue, or foot swelling.
  • Low numbers of platelets (thrombocytopenia): May result in gum bleeding, nosebleeds or bleeding in the internal organs and skin bruises.
  • Low white blood cells (neutropenia): May present infections, recurrent infections, mouth sores. 

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
100% of people have these symptoms
Low number of red blood cells or hemoglobin
Aplastic anemia
80%-99% of people have these symptoms
Bone marrow hypocellularity
Bone marrow failure
30%-79% of people have these symptoms
Low blood cell count
5%-29% of people have these symptoms
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding

[ more ]

Gingival bleeding
Bleeding gums
Low blood neutrophil count
Low neutrophil count

[ more ]

Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection

[ more ]

Retinal hemorrhage
Retinal bleeding
Low platelet count


Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.


    Treatment for aplastic anemia varies depending on the severity. While some individuals with mild to moderate aplastic anemia may not require treatment, for others, treatment may include:[3][5]

    • Blood transfusions to keep blood cell counts at acceptable levels
    • Blood and marrow stem cell transplants to replace damaged stem cells with health ones from a donor (another person)
    • Medications to stimulate the bone marrow, suppress the immune system, and prevent and treat infections

    Blood and marrow stem cell transplants may cure aplastic anemia in some instances. This treatment option works best in children and young adults with severe aplastic anemia who are otherwise in good health.[5]

    For patients with severe aplastic anemia who are under the age of 20 years, and those ages 20 to 50 years who are otherwise in good health the first option is the transplant when a sibling donor is available. For those who do not have an available sibling donor, the medication eltrombopag or eltrombopag plus immunesuppression therapy can be used.

    For patients over 50 years of age, the decision is based on the patient’s overall health, and preferences, and treatment may include eltrombopag or eltrombopag plus immunesuppression therapy (horse anti-thymocyte globulin (ATG), cyclosporin A (CSA), and glucocorticoids). People older than 50 years old have more risks of having rejection with the transplant and have greater risks of treatment toxicity and early mortality.

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    • Eltrombopag(Brand name: Promacta) Manufactured by Novartis Pharmaceuticals Corp.
      FDA-approved indication: November 2018, eltrombopag (Promacta) was approved in combination with standard immunosuppressive therapy for the first-line treatment of adult and pediatric patients 2 years and older with severe aplastic anemia. In August 2014, it was approved for the treatment of patients with severe aplastic anemia who have had an insufficient response to immunosuppressive therapy.
      National Library of Medicine Drug Information Portal
      Medline Plus Health Information


    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
        • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Aplastic anemia. Click on the link to view a sample search on this topic.


            1. What Is Aplastic Anemia?. National Heart, Lung, and Blood Institute. August 22, 2012; https://www.nhlbi.nih.gov/health/health-topics/topics/aplastic.
            2. Aplastic Anemia. MedlinePlus. August 2016; https://medlineplus.gov/aplasticanemia.html.
            3. Bakhshi S. Aplastic Anemia Treatment & Management. Medscape Reference. 2017; https://emedicine.medscape.com/article/198759-overview.
            4. Treatments. The Aplastic Anemia and MDS International Foundation. 4/19/2016; https://www.aamds.org/diseases/aplastic-anemia/treatment.
            5. How Is Aplastic Anemia Treated?. National Heart, Lung, and Blood Institute. 5/17/2012; https://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/treatment.

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