National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Sideroblastic anemia

Not a rare disease Not a rare disease
Other Names:
Anemia sideroblastic
Categories:
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]
Last updated: 1/26/2017
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]
Last updated: 1/26/2017
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]

Last updated: 1/26/2017
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]
Last updated: 1/27/2017
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]
Last updated: 1/27/2017
The prognosis of sideroblastic anemia varies depending on the underlying cause. For acquired cases, such as those associated with alcohol and drugs, there may not be long-term symptoms. Patients requiring transfusions, those with conditions unresponsive to pyridoxine and other therapies, and those with a myelodysplastic syndrome that develops into acute leukemia have a poorer prognosis. Major causes of death in cases of sideroblastic anemia are secondary hemochromatosis from transfusions and leukemia.

Thrombocytosis appears to be a relatively good prognostic sign. Patients with no need for blood transfusions are very likely to be long-term survivors, whereas those who become transfusion dependent are at risk of death from the complications of secondary hemochromatosis.[3]
Last updated: 1/27/2017

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Sideroblastic anemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

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

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.

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  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; http://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/sideroblastic-anemias.
  3. Muhammad AM. Sideroblastic Anemias. Medscape. November 18, 2015; http://emedicine.medscape.com/article/1389794-overview.