Thalassemia: What It Is and How It's Treated By: Nethiran Mugunthan

 What Is Thalassemia?

Thalassemia is a genetic blood disorder that affects how the body makes hemoglobin (protein in red blood cells that carries oxygen around the body). Normal hemoglobin is built from two types of protein chains, alpha and beta, and if the body can't make enough of one of them, red blood cells end up malformed and can't carry oxygen properly. The result is anemia that usually shows up in early childhood and sometimes sticks around for life. It's an inherited condition, meaning you need at least one parent who's a carrier to pass it on, and it comes from either a mutation or a missing part in the gene responsible for making one of those globin chains.

There are two main types: alpha thalassemia and beta thalassemia (depending on which globin chain is affected). The severity of the disease depends on how much of the gene in mutated/missing.

Alpha vs. Beta Thalassemia

Alpha thalassemia happens when 1+ alpha-globin genes gets deleted. Losing one copy doesn't cause any noticeable problems at all. But losing all four leads to a condition called hydrops fetalis before birth (unfortunately its not survivable).

Beta thalassemia is caused by mutations in the beta-globin gene. If you inherit one mutated copy, you get thalassemia minor (mild and often doesn't cause symptoms at all). But if you inherit two mutated copies, you get thalassemia major (Cooley anemia), which is much more serious. Babies with thalassemia major are usually born looking totally healthy, but symptoms kick in around six months of age, when the fetal hemoglobin they were relying on in the womb starts getting replaced by adult hemoglobin which they can't properly produce. There's also thalassemia intermedia, which is a type of thalassemia which’s severity is somewhere between major and minor thalassemia.

Symptoms

As thalassemia causes red blood cells to constantly break down and be formed incorrectly, the body tries to compensate by increasing red blood cell production everywhere (e.g. in the liver and spleen) not just the bone marrow) The increase in compensation causes most of the visible effects of the disease like bone changes (“Chipmunk face"), enlarged liver and spleen, slowed growth and delayed puberty, jaundice, and gallstones. Patients who need regular blood transfusions also build up excess iron over time, which can eventually damage the heart, liver, and hormone-producing organs if it isn't managed.

How Doctors Diagnose It

Normally, a basic blood test is initially performed. Thalassemia normally shows up as anemia but has  unusually small red blood cells, this leads doctors away from the more common iron-deficiency anemia and toward thalassemia instead. Then the blood is examined under a microscope and undergoes a test called hemoglobin electrophoresis. Haemoglobin electrophoresis separates out the different types of haemoglobin in the blood and normally confirms the diagnosis and also tells doctors about which type of thalassemia the patient has. Genetic testing is then used to find out the exact mutation (importent for family planning and for testing during pregnancy in families known to be carriers)

Treatment

Treatment depends on the severity of the disease. People with thalassemia minor normally don't need any ongoing treatment at all (may need some blood transfusions during physically demanding procedures like surgery) and live relatively ‘normal’ lives.

For people with moderate or severe thalassemia, blood transfusions is taken regularly (weekly) in order to keep hemoglobin levels high enough to feel healthy and to stop the body tiring itself out by trying to make more red blood cells on its own. Unfortunately, regular transfusions result in a build up of iron over time, causing patients to take medication called iron chelators which helps clear out the excess iron and protects the heart and other organs from damage.

Sometimes, doctors will recommend splenectomy (surgery done to remove the spleen) if the spleen has swollen up and is absorbing too much red blood cells from the transfusion (increasing the number of times a patient must undergo blood transfusions). Sometimes the bladder could also be removed if gallstones become an issue due how much bilirubin (byproduct of broken-down red blood cells) these patients produce.

There are also newer medications which reduce the number of times patients must undergo blood transfusions which improve the patients quality of life improvement. An example is a bone marrow or stem cell transplant from a matched donor which can cure thalassemia. However, finding a matching donor is hard, so only a low number of people with thalassemia have that option and so the majority end up relying on transfusions and chelation therapy (therapy used to remove the excess iron in the patients) as their long term plan.

More recently, treatments based on gene editing have increased in popularity and have become another possible cure. Gene editing treatment is based around the idea of editing a patient's own stem cells which causes the body to start making a different type of hemoglobin on its own. This allows doctors to avoid finding a matched donor. However, gene editing is still in its early stages and is not used as a standard treatment/cut but it's changing what "treatment" for thalassemia might look like going forward.

Why This Matters

Thalassemia is one of the most common inherited blood disorders worldwide, and for people with major thalassemia, it's a lifelong commitment - regular transfusions, constant monitoring while also managing side effects of treatment itself, not just the disease. Better awareness helps with earlier diagnosis, and continued progress on treatment (including newer options beyond transfusion) is slowly making life easier and, for some patients, opening the door to an actual cure.

 

References:

1. Bajwa H, Basit H. Thalassemia. In: StatPearls. Treasure Island, FL: StatPearls Publishing; 2023. (accessed 01/07/2026 )

2. Frangoul H, Altshuler D, Cappellini MD, et al. CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. N Engl J Med. 2020 Dec 5.

(accessed 01/07/2026 )

3. Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010 (accessed 01/07/2026 )

(accessed 01/07/2026 )

4 National Library of  Medicine

(accessed 01/07/2026 )