Sideroblastic Anemia

If you have anemia, chances are there’s not enough iron inside your blood cells. That lack of iron -- the most common form of anemia -- means you’re also not producing enough hemoglobin, the protein in your red blood cells that carries oxygen throughout your body.

As a result, you don’t feel as energetic as you should. You might become tired, dizzy, or have a tough time falling asleep.

However, if your doctor diagnoses you with sideroblastic anemia, also known as SA, you have too much iron in your blood cells. SA forces bone marrow to produce abnormal red blood cells. Those cells contain too much iron, so they can’t effectively make hemoglobin.

The symptoms of SA are similar to other types of anemia. You might feel tired, irritable, and find it difficult to breathe. Other symptoms of SA include:

Types of SA

There are two main types of sideroblastic anemia: inherited and acquired.

Inherited SA is a rare genetic condition. In other words, you get it from one of your parents. The most common form of inherited SA is known as X-linked sideroblastic anemia. It’s caused by a mutation, or change, in a gene that disrupts normal hemoglobin production. Your body tries to make up for the shortage of hemoglobin by absorbing more iron from food. In the most severe cases, inherited SA can cause organ damage, especially to the liver. Inherited SA is uncommon and is usually diagnosed before age 30.

Acquired forms of sideroblastic anemia are more common and are often reversible. Although doctors don’t know the exact cause of acquired SA in most people, you can get the disease by using certain prescription drugs (mainly for tuberculosis) and by drinking alcohol.

It’s also caused by extended contact with certain toxic chemicals, or from other illnesses such as immune disorders, tumors, or metabolic diseases.

About 10% of people with acquired SA develop leukemia. People with SA (both inherited and acquired) might also develop hemochromatosis, a common iron-overload disease.

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Diagnosing SA

Diagnosing sideroblastic anemia can be tricky because its symptoms are similar to other types of anemia. Plus, SA progresses slowly and you might not know you have it.

You need to listen to your body. If you have any of the symptoms of SA, talk to your doctor. Blood tests and other procedures will tell your doctor whether you have SA or not. Your doctor may also order MRI and genetic testing.

Treating SA

There are several treatment options for SA, but it depends on whether you’re diagnosed with acquired or inherited SA. Your doctor might have you eat more foods or take supplements rich in vitamin B6 (pyridoxine). Studies show that vitamin B6 may help with both acquired and inherited SA.

You can also take medication to get rid of some of the extra iron in your body. Your doctor might consider an infusion of deferoxamine (Desferal) under your skin (subcutaneously) or injected into a muscle (intramuscular). Deferasirox (Exjade) is a pill that also seems to work, but can cause kidney problems.

Your doctor can also order a blood transfusion, especially if you don’t respond to vitamin B6 therapy. However, there are drawbacks. A transfusion could make your iron levels worse and lead to liver damage. A bone marrow transplant is the treatment of last resort.

WebMD Medical Reference Reviewed by Louise Chang, MD on September 15, 2018

Sources

SOURCES:

National Institutes of Health, Genetics Home Reference: “X-linked sideroblastic anemia.”

National Institutes of Health: “Sideroblastic anemia.”

U.S. National Library of Medicine, Medline Plus: “Isoniazid,” “Pyrazinamide.”

Medscape: “Sideroblastic Anemias Treatment & Management.”

 

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