Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Sideroblastic anemia alone.
Find your community on the free RareGuru App.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. 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.
Source: GARD Last updated on 05-01-20
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.
Last updated on 05-01-20
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
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
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
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
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
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.