Rare Pulmonology News

Disease Profile

Pure red cell aplasia

Prevalence
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.

Unknown

Age of onset

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ICD-10

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Inheritance

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

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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

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X-linked
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.

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

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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.

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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.

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Not applicable

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Other names (AKA)

PRCA

Summary

Pure red cell aplasia (PRCA) is a rare condition that affects the bone marrow. Bone marrow contains stem cells which develop into the red blood cells that carry oxygen through the body, the white blood cells that fight infections, and the platelets that help with blood clotting. In people with PRCA, the bone marrow makes a reduced number of red blood cells (called anemia). As a result, affected people may experience fatigue, lethargy, and pale skin.[1][2] PRCA has many different causes. A rare congenital form of PRCA, called Diamond Blackfan syndrome, is an inherited condition that is also associated with other physical abnormalities. PRCA can also be due to certain medications, infections, pregnancy, renal failure, and conditions such as thymomas, autoimmune disease (such as systemic lupus erythematosus), cancers of the blood, and solid tumors. In many cases, the cause of the condition is unknown (idiopathic).[1][3] The treatment of PRCA aims to address the underlying cause of the condition and relieve the associated signs and symptoms.[1]

Organizations

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 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

    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Pure red cell aplasia. Click on the link to view a sample search on this topic.

        References

        1. Paul Schick, MD. Pure Red Cell Aplasia. Medscape Reference. February 2015; https://emedicine.medscape.com/article/205695-overview.
        2. Pure Red Cell Aplasia, Acquired. NORD. 2007; https://rarediseases.org/rare-diseases/pure-red-cell-aplasia-acquired/.
        3. Stanley L Schrier, MD. Acquired pure red cell aplasia in the adult. UpToDate. July 2015;