Thalassemia: Symptoms, Causes, Diagnosis, Complications & Treatment

 

An inherited blood disorder called thalassemia (pronounced "thal-uh-SEE-me-uh") causes your body to produce less hemoglobin than normal. Red blood cells may carry oxygen because of hemoglobin. Anemia from thalassemia can make you feel fatigued.

 If your thalassemia is minimal, you may not require treatment. However, more severe forms may necessitate frequent blood transfusions. You can manage your fatigue by making appropriate food choices and exercising regularly.

An inherited blood disorder called thalassemia impairs your body's ability to produce healthy red blood cells and hemoglobin. Alpha and beta thalassemia are among the varieties. You could have mild to severe anemia-like symptoms if you have thalassemia. Iron chelation therapy and blood transfusions are two possible forms of therapy.

What is Thalassemia?

Thalassemia, pronounced "thal-uh-SEE-me-uh," is an inherited blood disorder. It interferes with your body's regular hemoglobin production. Red blood cells contain a protein called hemoglobin. It allows your red blood cells to carry oxygen throughout your body, feeding the other cells.

Your body makes fewer healthy hemoglobin proteins and your bone marrow makes fewer healthy red blood cells if you have thalassemia. Anemia is a condition in which the number of red blood cells is reduced. Because red blood cells are essential for carrying oxygen to your body's tissues, a shortage of healthy red blood cells can deprive your body's cells of the oxygen they require to make energy and thrive.

Also Read: Anemia: Symptoms, Causes, Diagnosis, Treatment & Prevention

Symptoms:

Thalassemia comes in various forms. Your condition's type and severity will determine the indications and symptoms you experience.
Symptoms of thalassemia might include:

• Weakness 
•  Fatigue
• Yellowish or pale skin
• Deformities of the facial bones
• Slow growth
• Swelling in the abdomen
• Urine that is dark

Some infants are born with thalassemia symptoms, while others acquire them throughout their first two years of life. Some individuals with a single mutated hemoglobin gene do not exhibit the symptoms of thalassemia.

Causes:

Mutations in the DNA of the cells that produce hemoglobin, the material in red blood cells that transports oxygen throughout your body, cause thalassemia. Children inherit the mutations linked to thalassemia from their parents.

Alpha and beta chains, which comprise hemoglobin molecules, are susceptible to mutation. Alpha-thalassemia or beta-thalassemia are the two conditions that arise from thalassemia, which is characterized by decreased production of either the alpha or beta chains.

The amount of gene mutations you inherit from your parents determines how severe your alpha-thalassemia is. The severity of your thalassemia increases with the number of gene mutations.

The section of the hemoglobin molecule that is impacted determines how severe your beta-thalassemia is.

 Alpha thalassemia:

The production of the alpha hemoglobin chain involves four genes. Both of your parents give you two. If you inherit:

• If you have a single gene mutation, you won't exhibit any thalassemia symptoms. However, you can infect your offspring with the disease because you are a carrier.
• You will have modest symptoms of thalassemia due to two faulty genes. Alpha-thalassemia trait could be a possible name for this disorder.
• You will have moderate to severe symptoms due to three faulty genes.

It is uncommon to inherit four defective genes, and stillbirth is typically the outcome. Infants with this illness frequently pass away soon after delivery or require blood therapy for the rest of their lives. Rarely, a stem cell transplant and transfusions can be used to treat a newborn with this illness.

Beta-thalassemia

The making of the beta hemoglobin chain involves two genes. Each of your parents gives you one. If you inherit:

• If you have one gene mutation, your symptoms will be minor. Beta-thalassemia or thalassemia minor are the names given to this disorder.

• You will have moderate to severe symptoms due to two faulty genes. This disorder is known as Cooley anemia or thalassemia major.

• Usually healthy at birth, babies with two faulty beta hemoglobin genes start to show symptoms within the first two years of life. Two faulty genes can also cause thalassemia intermedia, a milder form.

 Diagnosis:

Since symptoms typically manifest during the first two years of a child's life, moderate and severe thalassemia are frequently identified in childhood.

To diagnose thalassemia, your doctor may prescribe one of the following blood tests:

• Hemoglobin levels and the number (and size) of red blood cells are measured by a complete blood count (CBC). Thalassemia patients have lower hemoglobin and fewer healthy red blood cells than average. Additionally, their red blood cells can be smaller than usual.

• Your bone marrow may not be making enough red blood cells if your reticulocyte count, which measures the number of young red blood cells, is low.

• Iron studies will indicate whether thalassemia or an iron shortage is the cause of your anemia.

• Beta thalassemia is diagnosed by hemoglobin electrophoresis.

• Alpha thalassemia is diagnosed through genetic testing.

Risk factors:

Your risk of developing thalassemia is increased by the following factors.

• Thalassemia in the family. Mutations in hemoglobin genes cause thalassemia to be handed on from parents to offspring.

• A certain lineage. People of Mediterranean and Southeast Asian descent, as well as African Americans, are more likely to have thalassemia.

Complications:

The following are potential complications of moderate to severe thalassemia:

• Excess of iron. Both the illness and frequent blood transfusions can cause thalassemia patients to have excessive amounts of iron in their systems. An excess of iron may damage your liver, heart, and endocrine system, which includes glands that produce hormones that control bodily functions.

• Infection. Individuals who have thalassemia are more susceptible to infection. If you have had your spleen removed, this is especially true.

Severe thalassemia can lead to the following complications:

• Abnormalities of the bones. Your bones may enlarge due to thalassemia-induced bone marrow expansion. This may lead to aberrant bone structure, particularly in the skull and face. In addition to making bones thin and brittle, bone marrow growth raises the risk of bone fractures.

• Enlarged spleen. The spleen aids in the body's defense against infection and the removal of unwanted materials like aging or damaged blood cells. A significant percentage of red blood cells are frequently destroyed in conjunction with thalassemia. Your spleen grows larger and has to work more than usual as a result.

• An enlarged spleen can shorten the survival of transfused red blood cells and exacerbate anemia. Your doctor may recommend surgery to remove your spleen if it becomes too large.

• Slower rates of growth. Anemia may delay puberty and limit a child's development.

• Cardiac issues. Severe thalassemia may be linked to congestive heart failure and irregular heartbeats.

What is the treatment for thalassemia?

Iron chelation and blood transfusions are the usual therapies for thalassemia major.

• To restore normal levels of healthy red blood cells and hemoglobin, a blood transfusion involves receiving injections of red blood cells through a vein. For those with moderate or severe thalassemia, transfusions will be given every four months; for those with beta-thalassemia major, they will be given every two to four weeks. Hemoglobin H illness and beta thalassemia intermedia may require occasional transfusions (e.g., during infection).

• Iron chelation is the process of removing too much iron from your body. Iron overload is a risk associated with blood transfusions. An excess of iron can harm organs. Iron chelation therapy, which can be taken as a pill, will be administered to you if you receive transfusions frequently.

• Your body can produce healthy blood cells with the aid of folic acid supplements.

• The only cure for thalassemia is a bone marrow and stem cell transplant from a compatible related donor. The donor and the recipient of the donation share the same types of proteins on their cell surfaces known as human leukocyte antigens (HLA). During the surgery, your doctor will infuse bone marrow stem cells from your donor into your blood. Within a month, the transplanted cells will begin producing new, healthy blood cells.

• An injectable called lupatercept, which is administered every three weeks, can increase the production of red blood cells in your body. It can be used to treat transfusion-dependent beta thalassemia in the United States.

Prevention:

The majority of the time, thalassemia cannot be prevented. If you wish to have children and you have thalassemia or a thalassemia gene, you might want to consult a genetic counselor.

One type of assisted reproductive technology diagnosis involves in vitro fertilization and screening an embryo for genetic abnormalities in its early stages. This could result in healthy offspring for parents who carry a faulty hemoglobin gene or who have thalassemia.

In a lab, the process involves retrieving mature eggs and fertilizing them with sperm in a dish. Only embryos free of genetic flaws are placed into the uterus after being examined for them.

References:

• Centers for Disease Control and Prevention. Thalassemia. (https://www.cdc.gov/ncbddd/thalassemia/)Accessed 6/3/2022.

• Jameson JL, et al., eds. Disorders of hemoglobin. In: Harrison's Principles of Internal Medicine. 20th ed. The McGraw-Hill Companies; 2018. https://accessmedicine.mhmedical.com. Accessed Oct. 6, 2019.

• Betts M, Flight PA, Paramore LC, Tian L, Milenković D, Sheth S. Systematic literature review of the burden of disease and treatment for transfusion-dependent β-thalassemia. (https://pubmed.ncbi.nlm.nih.gov/31882227/) Clin Ther. 2020;42(2):322-337.e2. Accessed 6/3/2022.

• National Heart, Lung, and Blood Institute. What Are Thalassemias? (https://www.nhlbi.nih.gov/health/thalassemias) Accessed 6/3/2022.

• Needs T, Gonzalez-Mosquera LF, Lynch DT. Beta Thalassemia (https://pubmed.ncbi.nlm.nih.gov/30285376/). In: StatPearls. Treasure Island (FL): StatPearls Publishing; October 17, 2021. Accessed 6/3/2022.

• Benz EJ. Clinical manifestations and diagnosis of the thalassemia. https://www.uptodate.com/contents/search. Accessed Oct. 4, 2019.

• A guide to living with thalassemia. Centers for Disease Control. https://www.cdc.gov/ncbddd/thalassemia/living.html. Accessed Oct. 4, 2019.

• Bajwa H, Basit H. Thalassemia. (https://www.ncbi.nlm.nih.gov/books/NBK545151/) [Updated 2021 Nov 5]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Accessed 6/3/2022.