Sideroblastic anemia

What causes sideroblastic anemia?

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).

Hereditary causes of sideroblastic anemia include:

Acquired causes of sideroblastic anemia include:

Last updated on 05-01-20

How is sideroblastic anemia diagnosed?

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.

Last updated on 05-01-20

What is the long-term outlook for sideroblastic anemia?

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.

Last updated on 05-01-20

How might sideroblastic anemia be treated?

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.

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.

Last updated on 05-01-20

Where To Start

Information Center for Sickle Cell and Thalassemic Disorders - Sideroblastic Anemia

The Information Center for Sickle Cell and Thalassemic Disorders, a service of Brigham and Women's Hospital and the Massachusetts General Hospital, provides information about sideroblastic anemia. Click on the above link to access this information.

Last updated on 04-27-20

Name: Iron Disorders Institute Inc. P.O. Box 4891
Greenville, SC, 29608, United States
Fax : 864-292-1878 Email: Url:

Connect with other users with Sideroblastic anemia on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App