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What Are the Types, Symptoms, Causes, and Treatments of Thalassemia?

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Thalassemia is a genetic blood disorder. However, it is manageable with correct therapy. Discover more in the article below.

Written byDr. Goswami Parth Rajendragiri

Medically reviewed byiCliniq medical review team

Published At March 12, 2018
Reviewed AtMay 30, 2025
What Are the Types, Symptoms, Causes, and Treatments of Thalassemia?

Introduction

Thalassemia is a hereditary blood condition. It interferes with your natural production of hemoglobin in the body. A protein that is present in red blood cells is called hemoglobin. It enables the oxygen your red blood cells carry throughout your body to support the other cells. When you have thalassemia, your bone marrow produces fewer healthy red blood cells, and your body makes fewer healthy hemoglobin proteins, thus leading to anemia. Anemia is a condition in which there are fewer red blood cells. Since red blood cells are essential for delivering oxygen to your body's tissues, a shortage of healthy red blood cells can deprive your body's cells of the oxygen they need to thrive and generate energy.

What Causes Thalassemia?

The four protein chains that make up hemoglobin are two alpha and two beta globin chains. Your parents' genes, or genetic information, are in alpha and beta chains. Consider these genes the "code" or programming that governs each chain; consequently, your hemoglobin—thalassemia results from the absence of any of these genes.

The four genes that comprise alpha globin protein chains are two from each parent.

The two genes that make up beta globin protein chains are one from each parent.

Your thalassemia is determined by whether the genetic abnormality is present in your alpha or beta chain. The extent of the problem will determine the severity of your condition.

What Are the Symptoms Associated With Thalassemia?

You probably would not experience any symptoms if one alpha gene is absent. You might not have any symptoms if you have one beta gene or two alpha genes missing. Alternatively, you might experience mild symptoms of anemia, such as fatigue.

The symptoms listed below are linked to more moderate disease:

  • Growth issues.

  • Delayed onset of puberty.

  • Abnormalities of the bones, such as osteoporosis.

  • An enlarged spleen is an organ in the abdomen that helps fight infection.

How Is Thalassemia Treated?

Iron chelation and blood transfusions are common treatments for thalassemia major.

1. Blood Transfusion

Red blood cells are injected into a vein during a blood transfusion to restore normal hemoglobin and healthy red blood cell numbers. If you have beta thalassemia major, you will receive transfusions every two to four weeks, and if you have moderate or severe thalassemia, every four months. Hemoglobin H disease (a disease affecting blood) and beta thalassemia intermedia may require occasional transfusions.

2. Iron Chelation

The goal of iron chelation is to rid your body of excess iron. Blood transfusions carry the risk of iron excess. An excess of iron can harm organs. Iron chelation therapy will be administered to you if you receive transfusions frequently.

3. Bone Marrow and Stem Cell Transplant

A transplant of bone marrow and stem cells from a compatible relative is the best treatment for thalassemia. The donor and the recipient of the transplant share the same kinds of proteins, called human leukocyte antigens (HLA). The doctor infuses stem cells and bone marrow from your donor. The transplanted cells will produce new, healthy blood cells within a month.

4. Luspatercept

An injection called luspatercept, administered every three weeks, can increase the production of red blood cells in the body. In the United States, it can be used to treat transfusion-dependent beta-thalassemia.

Recent Advancements in Gene Therapies Used in Thalassemia:

Hemoglobin, a protein in red blood cells that carries oxygen to body tissues, is not usually synthesized in people with beta thalassemia (a genetic blood disorder). Variations in the beta-globin gene cause it. Patients who have the most severe form of the disease are "transfusion-dependent" because they need blood transfusions every two to five weeks for the rest of their lives. Patients need to be closely watched for complications from the disease and the transfusions, which can lead to iron buildup in the heart, liver, spleen, and other organs.

The only gene treatment for beta thalassemia licensed by the FDA can restore normal red blood cells by transferring working copies of the defective gene into the patient's blood stem cells. The red blood cells can produce hemoglobin at normal or nearly normal levels. Different gene therapies that restore healthy red cell function are being researched for beta thalassemia.

FDA-Approved Gene Therapy for Thalassemia

1. Casgevy

For qualified patients with transfusion-dependent thalassemia, the gene-edited cell therapy Casgevy precisely breaks the double strands of the patient's own hematopoietic stem and progenitor cells at the BCL11A gene's erythroid-specific enhancer region. As a result of this edit, high amounts of fetal hemoglobin (HbF; hemoglobin F) are produced in red blood cells. During fetal development, the oxygen-carrying hemoglobin naturally exists in the form known as HbF. After birth, it transforms into the adult form.

Using the patient's modified blood stem cells, Casgevy is customized for each patient and boosts the production of hemoglobin F, also known as fetal hemoglobin or HbF. Increased HbF has been demonstrated to enhance red blood cell production and function while also raising total hemoglobin levels. This can help beta thalassemia patients stop requiring frequent blood transfusions.

The following are the most typical side effects of Casgevy:

  • Low platelet counts can cause bleeding and impair blood clotting ability.

  • Low white blood cell counts could increase your vulnerability to infection.

If you experience any of the following symptoms, notify your healthcare provider immediately:

  • Fever.

  • Chills.

  • Any infections.

  • Severe headache.

  • Unusual bruises.

  • Extended bleeding.

2. Zynteglo

The FDA has approved Betibeglogene autotemcel (beti-cel; Zynteglo) for treating β-thalassemia in adult and pediatric patients requiring frequent red blood cell infusions. Patients will receive beti-cel as a single dose of gene therapy. Beti-cel is a gene therapy for β-thalassemia that is dependent on transfusions. This product combines the patient's autologous stem cells and a lentiviral vector that expresses the β-globin gene, enabling the production of normal human β-globin. This will allow the synthesis of normal adult hemoglobin, or hemoglobin A, which is typically impossible for patients with transmission-dependent thalassemia. Beti-cel was created as a one-time gene therapy to give hematopoietic stem cells functional copies of a modified β-globin gene. Once the gene is established, producing HbAT87Q (a specific hemoglobin variant) by hematopoietic stem cells may eliminate or lessen the need for transfusions.

The following are the most typical side effects of Casgevy:

  • Inflammation of the mouth or gut.

  • Fever occurs when the white blood cell count is low.

  • A fever.

  • Throwing up.

  • Loss of hair.

  • Bleeding nose.

  • Pain in the stomach.

  • Pain in the muscles and bones.

Can Thalassemia Be Prevented?

While thalassemia is a genetic condition and cannot be prevented through lifestyle choices, there are certain healthy habits that you can follow to manage your condition better and potentially reduce complications. These include:

  • Do Not Take Extra Iron

Avoid consuming too much iron. Iron-containing vitamins and supplements should only be taken as directed by a healthcare provider. Additionally, find out if you should limit foods high in iron. Meat, fish, spinach, certain cereals, and orange juice are among them.

  • Eat a Healthy Diet

Eating well can improve your mood and increase your vitality. Additionally, your doctor may suggest a folic acid supplement. This aids in the body's production of new red blood cells.

  • Get Regular Exercise

If you are inactive, ask your medical team to assist you in getting started. You may be recommended to try heart-healthy aerobic activities like jogging, biking, or walking. If you have joint pain, try doing mild exercises like yoga, swimming, or water aerobics.

Conclusion

An inherited blood condition called beta thalassemia impairs the normal synthesis of hemoglobin, a protein found in red blood cells that transports oxygen to bodily tissues. Changes in the beta-globin gene bring it on. It is possible to treat thalassemia. The severity of your thalassemia determines your symptoms, the kinds of treatments you will require, and how frequently you will need them. If you have mild thalassemia, your life expectancy should be normal. If you adhere to your treatment plan, you have a good chance of long-term survival regardless of your condition.

Keynotes

Within the first two years of life, the majority of children with moderate to severe thalassemia exhibit symptoms. Blood tests can confirm thalassemia. It can be very draining to have a noncancerous blood disorder. However, there is hope, and various new and effective treatment options have arrived that we have discussed in this article, which will guide you to use them under a doctor's supervision. Early detection and prevention will help in a better way. You can also consult our specialist at iCliniq to learn more about the recent advancements in drugs for thalassemia.

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Frequently Asked Questions

Thalassemia is an inherited disorder of the blood wherein there is reduced or abnormal hemoglobin production, a red blood protein molecule carrying oxygen. This leads to excessive destruction of these red blood cells ending up in anemia. Alpha and beta-thalassemia are dangerous types, whereas thalassemia minor is a less severe type. If left untreated can lead to life-threatening complications.
Medications and supplements provide a supportive cure for the disorder. Repeated blood transfusions with iron chelation therapy and folic acid supplementation are currently the treatment of choice. A stem cell transplant is the only permanent cure for thalassemia.
Thalassemia is not an uncommon disorder. It is a common inherited blood disorder. Thalassemia major has the prevalence of occurence in the tropical and subtropical regions. It commonly occurs in people belonging to South Asia, Italy, Middle East, Greece, Turkey, and Africa.
Blood tests reveal thalassemia. A complete blood count shows the number and size of red blood cells, iron, and hemoglobin levels. In thalassemia, both are reduced. Hemoglobin electrophoresis test shows the different types of hemoglobin and detects the abnormal thalassemia hemoglobin. Genetic tests, chorionic villus sampling, and amniocentesis are done in pregnant mothers to diagnose the risk in the fetus.
Thalassemia is an autosomal recessive inherited blood disorder meaning it runs in families mostly. It gets passed on from parents to children genetically. If a child inherits one mutated gene, it becomes a carrier, and if the child inherits two mutated genes, it gets affected by thalassemia.
Thalassemia patients can give birth to babies similar to the normal population, but the risk of passing thalassemia to the baby is high. Also, some women who require blood transfusions are at risk of infertility. A pregnant thalassemia woman has the risk of developing cardiomyopathy and diabetes, impacting fetal growth. It is advisable to get a carrier screening test before or during pregnancy to study the risk of inheritance. Prenatal tests like chorionic villus sampling and amniocentesis are done to detect if the unborn baby has thalassemia.
Babies with less severe thalassemia minor types do not have any symptoms, but babies born with thalassemia major appear normal initially. But soon after a few months, they develop symptoms like pale or yellow skin, shortness of breath, fatigue, headaches, sleeping longer than usual, swollen abdomen, prominent facial bones, stunted growth, and poor appetite. Usually, jaundice and spleen enlargement are present.
People with thalassemia minor tend to lead an everyday life as they seldom have symptoms. Thalassemia major people, however, can lead a normal-like life keeping some risks and complications in mind. As some regularly need blood transfusions, there is a risk of iron overload in the body, causing heart problems, hepatitis, liver problems, enlarged spleen, bone deformities, etc. Hence there is a need for close watching of their health condition.
People with thalassemia major have reduced hemoglobin levels of less than 7 g/dL. Mean corpuscular volume (MCV) is between 50 and 70 fl, mean corpuscular hemoglobin (MCH) is between 12 and 20 pg.
Thalassemia patients need to avoid food rich in iron, such as beef, pork, oysters, liver, beans, tofu, and peanut butter. Grains and packaged cereals should also be avoided. Green leafy vegetables, spinach, watermelon, prunes, raisins, peas, dates, and broccoli must also not be consumed. Orange juice tends to increase iron absorption. Tea, coffee, and dairy tend to decrease iron absorption.
Exercise, in general, is beneficial for everyone, including thalassemia. However, some thalassemia people experience fatigue and pain, which becomes a hindrance to physical activity. But they are encouraged to indulge in regular physical activity for better muscle mass and bone strength as they are prone to osteoporosis and reduced muscle mass. Based on their ability, they can choose from aerobics, yoga, walking, cycling, etc.
Coffee has been found to decrease dietary iron absorption. Hence it is beneficial in thalassemia as they are prone to iron overload. Also, coffee contains antioxidants which are also helpful for thalassemia. Therefore, coffee in moderation is beneficial.
Due to the iron overload, thalassemia can damage the heart, liver, spleen, and endocrine glands like the thyroid and adrenal. It also causes osteoporosis or brittle bones leading to fractures. Reduced muscle mass, generalized fatigue are also observed.
Although it is infrequent to develop thalassemia with leukemia, certain coexisting conditions’ case reports are available. But neither thalassemia nor leukemia increases the risk of each other. However, a scarce thalassemia population with blood transfusions has an increased risk of blood-related and abdominal malignancies than the general population.
Thalassemia does not cause Down syndrome. Down syndrome is a chromosomal abnormality. Very rare instances of coinheritance of thalassemia and Down syndrome are reported.
Thalassemia minor does not affect fertility, while thalassemia major with blood infusions are prone to infertility. Iron overload causes endocrine abnormalities and hormonal deficiencies. As a result, their reproductive health is affected. In men, sperm production is affected. Underdeveloped penis and testicles are noted. In women, it affects the menstrual cycle, ovum production. Some develop late sexual maturation or abnormal sexual maturation, which hinders fertility.
Mild forms of thalassemia do not require treatment. Severe conditions need frequent blood transfusions, which in turn cause iron overload in the body. Iron chelation therapy is implicated in removing the excess iron levels as they pose health complications. Folic acid supplementation is done to cure anemia. A bone marrow transplant from a compatible donor is the permanent cure.
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Dr. Goswami Parth Rajendragiri from iCliniq
Dr. Goswami Parth Rajendragiri

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