What is Thalassemia? Common Symptoms and Available Treatments

This article will discuss what thalassemia is, what the symptoms of thalassemia are, its potential causes, the side effects, what happens if it is not treated, and how it is commonly treated, including both professional medical treatments and in-home options.

What is thalassemia?

Thalassemia is an inherited blood disorder that causes your body to make less hemoglobin than normal. Hemoglobin is a protein in your blood that allows your red blood cells to transport oxygen throughout your body.

Mild cases of thalassemia may not require treatment. Severe thalassemia may require you to have frequent blood transfusions. Exercising regularly and eating a healthy diet can help reduce fatigue caused by thalassemia or the anemia that thalassemia can cause.

There are two types of thalassemia: alpha thalassemia and beta thalassemia.

Alpha thalassemia

You will develop alpha thalassemia if one or more of the four genes (two from each parent) are defective. Depending on how many defective genes you inherit, you may or may not experience symptoms of anemia. If you experience anemia symptoms, the number of defective genes will also determine your symptoms’ severity.

You have alpha thalassemia minima if you have only one defective or missing alpha gene. This type of thalassemia does not cause any symptoms.

You have alpha thalassemia minor if you have two defective or missing alpha genes. This type of thalassemia may cause mild symptoms or no symptoms at all.

You have hemoglobin H disease if you have three defective or missing alpha genes. This condition causes moderate to severe symptoms.

If you have four defective or missing alpha genes, you have hydrops fetalis with Hemoglobin Barts. Most babies born with this condition do not survive. If they survive, they will likely need regular blood transfusions their whole lives.

Beta thalassemia

You will develop beta thalassemia if you inherit one or two defective or missing beta genes. Everyone inherits two beta-globin genes (one from each parent).

If you have one defective or missing beta gene, you have beta thalassemia minor. This type of thalassemia causes minor symptoms.

You may have either moderate or severe beta-thalassemia if you have two defective or missing beta genes. Moderate beta thalassemia is called thalassemia intermedia. Severe beta thalassemia is called beta thalassemia major (also known as Cooley’s disease). As the names suggest, you will experience either moderate or severe symptoms, depending on your type.

What are the symptoms of thalassemia?

The specific symptoms (and their severity) depend on your type of thalassemia.

If you miss just one alpha gene, you will likely be asymptomatic (experiencing no symptoms). Two missing alpha genes or one missing beta gene may also cause no symptoms.

Beta thalassemia intermedia may cause mild to moderate symptoms, including:

• Bone abnormalities, such as osteoporosis
• Delayed puberty
• Enlarged spleen (the organ in your abdomen that helps fight infection)
• Growth problems

You may eventually need to have surgery to correct skeletal problems, and you may need to have your spleen removed if it grows too large.

Symptoms of severe anemia include the symptoms of mild to moderate anemia, along with the following:

• Dark or tea-colored urine
• Irregular facial bone structure
• Jaundice, which causes your skin to become pale or yellowish
• Poor appetite

Three missing alpha genes (Hemoglobin H disease) often cause newborns to have symptoms of anemia and lead to severe lifelong anemia. Beta thalassemia major (Cooley’s anemia) often causes severe symptoms of anemia that are noticeable by the time a child is two years old.

What causes thalassemia?

DNA mutations cause thalassemia in cells that produce hemoglobin, the substance in your red blood cells that makes it possible for your red blood cells to carry oxygen throughout your body. The DNA mutations that cause thalassemia are inherited (passed down to you) from your parents.

If the production of alpha hemoglobin molecule chains is reduced, you will develop alpha thalassemia. Similarly, beta thalassemia results from reduced production of beta chains.

What are the side effects of thalassemia?

Thalassemia causes three main complications or side effects: anemia, bone structure issues such as osteoporosis caused by enlarged bone marrow and stretched bones, and immuno-compromisation.

Thalassemia can cause a related blood disorder called anemia. Symptoms of anemia include:

• Difficulty concentrating
• Dizziness
• Fast heart rate
• Headaches
• Leg cramps
• Pale skin
• Shortness of breath
• Tiredness
• Weakness

Blood cells are mostly made in your bone marrow, which is the dark, spongy part in the middle of your bones. Having thalassemia or anemia makes your bone marrow need to work harder to produce blood cells, which may cause your bone marrow to grow bigger than normal. Bigger-than-normal bone marrow can cause your bones to expand, which may stretch them and make them thinner and more likely to break easily.

Blood is also made in your spleen. Your spleen also filters your blood and monitors your blood for certain infections. When your spleen finds infections, it helps fight them off. Having thalassemia can cause your spleen to become enlarged from trying to make more blood cells. If your spleen mainly produces extra blood cells, it cannot be as effective at filtering your blood or monitoring and fighting infections. This lack of defense against infection makes you immunocompromised. Being immuno-compromised, it is easier for you to get infections, and you may need the extra protection that comes from flu shots and other vaccines.

What happens if thalassemia is not treated?

If thalassemia is left untreated, it can lead to problems in your heart, liver, and spleen. The most common life-threatening complications of thalassemia in children are heart failure and infections.

How is thalassemia commonly treated?

There are several ways to treat thalassemia. These include dietary changes, professional medical treatments, and in-home treatment options.

Diet for thalassemia

Eating a low-fat, plant-based diet may help you manage your condition if you have thalassemia. You may need to limit how much iron-rich foods and drinks you consume if you have high levels of iron in your blood. Iron-rich foods include fish, meat, fortified bread, cereals, and juices.

Thalassemia can cause deficiencies in folic acid (folate) levels. This B vitamin is found in foods like dark leafy greens and legumes. It is essential for protecting red blood cells and mitigating the effects of high iron levels. If your diet does not supply you with enough folic acid, your doctor might ask you to take a 1 milligram (mg) oral folic acid supplement daily.

Although these particular dietary changes can help improve your condition, you must talk to your doctor before you make any changes to your diet or begin taking supplements.

Professional medical treatments

The treatment you will receive for thalassemia will depend on the type and the severity of your condition. Your doctor will determine what treatment will work best for you in your specific situation.

Some treatments for thalassemia include:

• Blood transfusions
• Bone marrow transplants
• Medications and supplements
• Possible surgery to remove your spleen or gallbladder

Your doctor may tell you not to take vitamins or supplements that contain iron, especially if you need blood transfusions. This is because blood transfusions can cause you to accumulate extra iron that your body cannot easily get rid of. If too much iron builds up in your body’s tissues, it can be fatal.

You may also need iron chelation therapy if you are receiving blood transfusions. Iron chelation therapy is usually given by an injection of a chemical that binds with iron and other heavy metals. This treatment helps your body get rid of excess iron.

In-home treatment options

Many thalassemia treatments available at clinics and hospitals can also be given at your home.

If you opt for in-home treatment options for thalassemia, a trained medical professional will come to your home to administer the treatment for you.

This option is ideal if you are elderly or have issues with mobility or transportation. It is also generally more convenient and comfortable to undergo treatment in your home.

Since thalassemia can cause immune compromisation and make you more susceptible to contracting illnesses and infections, in-home treatments are a safer option because you will not need to wait in a waiting room full of sick people. You will only have contact with the person giving you your treatment.

Now that you have a better understanding of the types, causes, symptoms, and other information about thalassemia, you can move forward with treatment if you have the condition. If you are not sure if you or your partner or any children you have together may have thalassemia, you should get everyone genetically tested to see who has the condition and what the severity is. This type of testing is also important if you want to have a child and want to make sure that neither you nor your partners are carriers of thalassemia.

References:

https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995

https://my.clevelandclinic.org/health/diseases/14508-thalassemias

https://www.cdc.gov/ncbddd/thalassemia/treatment.html