Sideroblastic Anemia: Causes, Symptoms, Treatment, And Types

Sideroblastic anemia is a rare condition affecting less than 200,000 people in the US. It is a laboratory diagnosis associated with the appearance of abnormal accumulation of iron around the nucleus of the red blood cells, called ringed sideroblasts, when viewed under a microscope.¹

Sideroblastic anemia occurs due to the production of unhealthy sideroblasts by the bone marrow, resulting in suboptimally functioning hemoglobin in the red blood cells. Due to its low prevalence, there is minimal definite data on the epidemiology of the condition.

Even though sideroblastic anemia is rare, it can have devastating health implications for your body. Knowing about the condition and what to look for is the best way to get ahead.

Treatment options will depend on your condition, but you need regular check-ups. This way, your doctor can monitor and make treatment changes as required.

What is sideroblastic anemia?

Sideroblastic anemia occurs when the red blood cells cannot effectively use iron to produce hemoglobin which helps deliver oxygen to the body, despite normal iron levels inside the cell. This leads to an iron buildup in the cells, which causes a ring appearance in the red blood cell nucleus, producing cells called ringed sideroblasts when viewed microscopically.

Insufficient oxygen in the red blood cells leads to issues in major organs like the brain, liver, heart, and kidneys. A prolonged lack of sufficient oxygen can lead to lifelong complications with these organs.

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

Inherited SA

Inherited SA is also known as congenital sideroblastic anemia. It is caused by a mutation in your genes, leading to your cells not utilizing oxygen as they should. 

Even though inherited SA is rare, it still occurs in some individuals. Often with this type of SA, your body will try to compensate for the lack of hemoglobin by absorbing iron from other organs. In the end, you might have issues like liver damage when left untreated.

Acquired SA

Acquired SA is the most common type of sideroblastic anemia; luckily, it is reversible. It is caused by certain prescription drugs and, commonly, by the prolonged use of alcohol. It can also sometimes be caused by exposure to toxic chemicals. 

Causes

Sideroblastic anemia is a condition that can stem from various causes. Here are the main causes:

Genetic mutation

Even though this is rare, there have been cases of patients with sideroblastic anemia that inherited it from a gene mutation in their parents.

Alcohol

Excessive drinking is the most common cause of acquired sideroblastic anemia. Chronic alcoholics are advised to cut their intake to prevent getting sideroblastic anemia.

Copper deficiency

Copper is known to create an enzyme that protects the red blood cells from an iron overload. Not having this enzyme can cause sideroblastic anemia copper deficiency. 

Heavy metal poisoning 

Lead and arsenic poisoning can cause sideroblastic anemia.

Zinc overdose

Excess zinc levels in your body affect how your body uses iron and copper. Messing with these levels can lead to sideroblastic anemia.

Medication

Antibiotics and chemotherapy are known to remove copper from your bloodstream. A decrease in copper levels leads to an increase of iron in the red blood cells, leading to sideroblastic anemia.

By knowing the causes of sideroblastic anemia, doctors can devise the right treatment plan for you. Causes vary from patient to patient, so treatment options will also vary.

What are the symptoms of sideroblastic anemia?

Sideroblastic anemia exhibits symptoms of other forms of anemia. Knowing what to look out for helps patients seek medical advice as soon as things go wrong. 

Here are the main signs of sideroblastic anemia:

• Heart palpitations 

• Fatigue

• Weakness 

• Chest pain when exerting oneself

• Pale skin

• Enlarged spleen or liver

Who is at risk of developing sideroblastic anemia?

No single group of people is at risk of getting sideroblastic anemia. Studies have shown that males are more susceptible to having congenital sideroblastic anemia, while males and females are equally susceptible to acquired sideroblastic anemia.²

Complications associated with sideroblastic anemia

People with sideroblastic anemia are at risk of liver cirrhosis and growth retardation. 

Sideroblastic anemia can also result in secondary hemochromatosis, ineffective erythropoiesis,  thrombocytopenia, and malabsorption. However, early diagnosis and treatment is the best way to prevent these from happening.

How is sideroblastic anemia diagnosed?

Before treatment starts, a diagnosis must be made. If a doctor suspects you have sideroblastic anemia, they will carry out a routine blood test.

The doctor might ask for a complete blood count (CBC) if a blood disorder is found. The tests look at the size of the red blood cells as well as the hemoglobin levels. 

Your doctor will ask for a peripheral blood smear if the CBC test shows abnormal results. The test involves treating your blood with a special stain to help identify any disorders while examining the slide under a microscope. The peripheral blood smear test helps identify the ring of sideroblasts in the middle of the red blood cell.

Some doctors request a bone marrow biopsy to help determine if these results are accurate. The test involves removing a small piece of bone tissue for analysis of cancer and any other diseases.

How sideroblastic anemia is treated

The treatment one receives for sideroblastic anemia depends on the underlying cause.

For congenital sideroblastic anemia, there is still no cure. Doctors can only treat the symptoms and complications of the condition. 

Vitamin B-6 therapy is also effective in treating sideroblastic anemia caused by genetics. If the therapy doesn't work, your doctor might recommend a red blood cell transfusion. Most anemic patients undergo this several times based on how well they do after transfusion.

Removing iron from the blood is commonly used when sideroblastic anemia is acquired. By removing excess iron, doctors can monitor if your body goes back to functioning normally.

If medication is the cause of the anemia, doctors will ask you to stop taking it. That way, they get to monitor how you are doing and find an alternative treatment for the medication.

If you acquired sideroblastic anemia from heavy metals or toxins, flushing the toxins out of your body can help reduce the iron levels in your system.

In severe cases, doctors can also recommend stem cell transplants as a last resort

The prognosis for sideroblastic anemia

Your prognosis or treatment plan depends on the cause of your sideroblastic anemia. Talk to your healthcare provider and determine the best treatment plan.

The lowdown

Sideroblastic anemia is a rare blood disorder affecting the body's red blood cells. Doctors can devise a clear treatment plan by identifying the condition's symptoms and the causes. Early diagnosis always comes in handy in such cases. There are different treatment plans, and you need consistent check-ups to determine disease progression.

Frequently asked questions

Even though sideroblastic anemia is not a new medical condition, most people know little about it. As such, getting a diagnosis that one has the condition can be scary. Here are some of the frequently asked questions regarding sideroblastic anemia. 

What kind of SA do I have?

There are two different types of sideroblastic anemia: genetic and acquired. The kind you have will be identified by the routine tests your doctor will order for diagnosis.

Why did I develop SA?

Different things can cause sideroblastic anemia. Talking to your healthcare provider helps determine the disease's cause and treatment options.

What are my treatment options?

Your treatment options will depend on the cause of your sideroblastic anemia. 

What are the treatment side effects?

Most of the treatment options have little to no side effects. There might be some lifestyle changes that you might need to make, which your doctor will discuss. 

What can I expect after treatment?

Most of the symptoms will go away after treatment. If you have congenital sideroblastic anemia, on the other hand, you might need to be on treatment for your whole life.

Can I pass SA on to my children?

You can pass on sideroblastic anemia to your children in some cases. Carrying out a gene test will help you determine the risk you, and in some cases, your partner, pose to future children.