Rare Hematology News

Disease Profile

Sideroblastic anemia

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)

Anemia sideroblastic

Categories

Blood Diseases

Summary

Sideroblastic anemia is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. In this condition, the iron inside red blood cells is inadequately used to make hemoglobin, despite normal amounts of iron. As a result, iron accumulates in the red blood cells, giving a ringed appearance to the nucleus (ringed sideroblast). The signs and symptoms of this condition may include fatigue, breathing difficulties, weakness, and enlargement of the liver or spleen. There are many potential causes of sideroblastic anemia.[1] Depending on the cause, it can be classified as hereditary (sometimes called congenital), acquired, and idiopathic (cause unknown). The treatment for this condition differs depending on the underlying cause. If acquired, avoidance and or removal of the toxin or drug can lead to recovery. Vitamin B6 (pyridoxine) may be useful in some circumstances.[1][2]

Symptoms

The signs and symptoms of sideroblastic anemia may include: fatigue, weakness, the sensation of a pounding or racing heart (palpitations), shortness of breath, headaches, irritability, and chest pain. Physical findings may include pale skin and/or a lemon-yellow colored tinge to the skin and rarely, a brownish discoloration caused by bleeding under the skin. Enlargement of the spleen (splenomegaly) and/or liver (hepatomegaly) may also occur. Rarely, in severe cases, acute leukemia can develop.[1]

Cause

Sideroblastic anemia can be caused by hereditary factors, acquired as part of an underlying condition or exposure to drugs or toxins, or the cause may be unknown (idiopathic).[1]

Hereditary causes of sideroblastic anemia include:[2][3]

Acquired causes of sideroblastic anemia include:[2][3]

Diagnosis

The diagnostic workup for sideroblastic anemia may include blood work (complete blood count, peripheral smear, iron studies) and a bone marrow aspiration and/or biopsy. Additional studies that may be useful include imaging of the brain, such as MRI and genetic testing for known or suspected hereditary conditions associated with sideroblastic anemia.[3]

Treatment

The treatment of sideroblastic anemia may differ depending on whether the underlying cause is inherited or acquired. For acquired cases, avoidance or removal of the toxin or causative medication may lead to recovery. Vitamin B6 (pyridoxine) therapy may be beneficial in both inherited and acquired forms. If vitamin B6 therapy is not effective, a blood transfusion can be useful, but since it has been known to worsen iron overload, the benefits and limitations of this option should be carefully considered. Rarely, when all other treatment methods have been exhausted, bone marrow transplantation may be utilized. While this therapy may offer the possibility of a cure, the complications associated with transplantation surgery must be considered.[2][3]

It is recommended that all individuals with sideroblastic anemia avoid zinc-containing supplements and the use of alcohol. Regular follow-up and care with a hematologist is important.[3]

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 Supporting this Disease

    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

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
      • 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 Sideroblastic anemia. Click on the link to view a sample search on this topic.

        References

        1. Anemias, Sideroblastic. National Organization for Rare Disorders (NORD). 2007; https://rarediseases.org/rare-diseases/anemias-sideroblastic/.
        2. Braunstein EM. Sideroblastic Anemias. Merck Manual Professional Version. November 2016; https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/sideroblastic-anemias.
        3. Muhammad AM. Sideroblastic Anemias. Medscape. November 18, 2015; https://emedicine.medscape.com/article/1389794-overview.

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