Sideroblastic anemia isn’t just one condition, but actually a group of blood disorders. These disorders can cause symptoms such as fatigue, weakness, and more serious complications.
In all cases of sideroblastic anemias, the bone marrow has difficulty producing normal, healthy red blood cells.
A person can be born with sideroblastic anemia or it can develop due to external causes, such as drug use or exposure to toxic chemicals. Treatment options depend on the underlying cause, but they often result in longtime survival.
Learn more about this condition, including symptoms, causes, risk factors, and treatment.
Sideroblastic anemia means the iron inside the red blood cells isn’t used effectively to produce hemoglobin — the protein that helps red blood cells deliver oxygen throughout the body.
As a result, iron can build up in red blood cells, giving a ring appearance (sideroblast) around the cell’s nucleus.
Without sufficient oxygen, organs such as the brain, heart, and liver can start to work less efficiently, causing symptoms and potentially serious long-term health problems.
There are three types of sideroblastic anemia:
- genetic (or hereditary)
The hereditary form of the disease, which is related to a mutated gene, usually appears by adulthood.
Acquired sideroblastic anemia develops after exposure to toxins, nutritional deficiencies, or other health challenges.
Signs of acquired sideroblastic anemia tend to develop after age 65.
Idiopathic means the origin of a disease can’t be determined. Some people have symptoms of sideroblastic anemia but no genetic or acquired cause can be discovered.
The causes of genetic or acquired sideroblastic anemia can usually be discovered through testing.
Hereditary sideroblastic anemia can result from a mutation of the ALAS2 and ABCB7 genes found on the X chromosome, or from mutations of genes on different chromosomes.
Other genetic conditions, such as Pearson syndrome or Wolfram syndrome, may also cause sideroblastic anemia.
Sideroblastic anemia can result from an assortment of health challenges, such as:
- alcohol misuse
- zinc overdose
- deficiencies of certain vitamins and minerals such as copper and vitamin B-6
Certain medications, such as antibiotics, progesterone, and anti-tuberculous agents, may also trigger sideroblastic anemia.
Signs of sideroblastic anemia are like those of most other types of anemia. They may include one or more of the following:
- shortness of breath
- chest pain with exertion
- pale skin of the arms and hands
- enlarged spleen or liver
Genetic sideroblastic anemia is more common in males than females. Acquired sideroblastic anemia happens equally in men and women.
Sideroblastic anemia, like other types of anemia, is often first detected in a routine blood test.
A complete blood count (CBC) may be done as part of your annual physical or if a blood disorder is suspected. It tests for levels of red blood cells, hemoglobin, and other markers of blood health.
Abnormal CBC results may prompt a test known as a peripheral blood smear. In this test, a drop of blood is treated with a special stain to help identify specific blood disorders or diseases. A blood smear can reveal whether the red blood cells contain the telltale ringed sideroblasts.
A bone marrow biopsy or aspiration may be ordered, too.
In a bone marrow biopsy, a small piece of bone tissue is removed and analyzed to check for cancer or other diseases. With bone marrow aspiration, a needle is inserted into the bone and a small amount of bone marrow is withdrawn for study.
The most appropriate treatment for sideroblastic anemia depends on its underlying cause.
For the acquired condition, removal of the toxin, such as iron, must be done to help return red blood cells to their proper form.
If a medication is identified as the cause, you must stop taking that drug and work with your doctor to find an alternative treatment.
Treatment with vitamin B-6 (pyridoxine) therapy may be helpful for both acquired and genetic forms of sideroblastic anemia. If pyridoxine therapy is ineffective, your doctor may recommend a red blood cell transfusion.
High iron levels can also be a concern for anyone with sideroblastic anemia, regardless of other treatments. Injections of the drug desferrioxamine (Desferal) can help the body rid itself of excess iron.
Bone marrow transplants or stem cell transplants may also be considered in severe cases of sideroblastic anemia.
If you’re diagnosed with sideroblastic anemia, it’s recommended you avoid vitamin supplements that contain zinc and that you avoid alcohol.
Sideroblastic anemia can affect anyone.
If you were born with it, you’ll likely notice symptoms by the time you reach adulthood. You’ll require ongoing monitoring by a hematologist — a physician who specializes in blood disorders.
You may need periodic treatments, depending on your iron levels and the health of your red blood cells and hemoglobin.
If you have the acquired form of the disease, working closely with a hematologist and other specialists may help you get to the underlying cause of the condition and a treatment that will take care of both problems.
The long-term prognosis for someone with sideroblastic anemia depends on its cause and other health considerations. With treatment and lifestyle adjustments, expectations for a long life are promising.