Have you ever heard of the disease called 'thalassemia'? Maybe someone in your family or a friend has this condition. This is actually a disease related to our blood. Today we are going to talk about one of the main types of thalassemia , Beta Thalassemia . Although this name may sound a bit complicated, we will talk about it very simply, in a way that you can understand.
What is Beta Thalassemia?
Simply put, beta thalassemia is a blood disorder in which our body cannot properly make hemoglobin . Now you may be asking, "What is hemoglobin?" Hemoglobin is a protein found in our red blood cells that contains a lot of iron. In fact, it is the main ingredient in red blood cells.
Think of it this way: hemoglobin is like a vehicle that helps our red blood cells carry oxygen. These red blood cells carry oxygen to other cells and tissues throughout the body. So, our cells use this oxygen to make energy.
Beta thalassemia is one of the two main types of thalassemia. In this, there are some changes (gene mutations), that is, a small error, in the genes in our hemoglobin protein. Because of this gene error, our body is unable to properly make the beta-globin protein in hemoglobin.
How does beta thalassemia affect my body?
When our body's beta-globin production decreases, our red blood cells become damaged. Then these damaged red blood cells are quickly removed from the blood. Now imagine, what happens if new red blood cells cannot be made to replace the lost ones? That's when anemia , or blood deficiency, develops.
Symptoms of anemia occur when we don't have enough red blood cells to carry oxygen to our body's tissues. Then those tissues don't get enough oxygen. The symptoms of anemia that come with beta thalassemia can range from mild to severe , depending on how low your red blood cell count is.
Who is at higher risk of developing beta thalassemia?
Beta thalassemia is a genetic disease that is inherited . This means that children inherit the gene defect related to this disease from their parents. Most people with beta thalassemia live in countries such as Africa, the Mediterranean region, the Middle East, India and Southeast Asia. However, due to migration around the world, beta thalassemia patients are now also being reported in Northern Europe and North America. This disease is also seen in our country, Sri Lanka.
How common is beta thalassemia?
Did you know that thalassemia is the leading cause of inherited anemia? Thousands of new beta thalassemia patients are diagnosed every year. However, the good news is that with the improvement of preventive measures such as screenings to identify people with the thalassemia gene defect, the number of cases has decreased to some extent .
What causes beta thalassemia?
The main cause of beta thalassemia is a genetic defect (mutation) that limits the production of beta-globin in our body. As we have already said, hemoglobin is made up of four protein chains: two alpha-globin chains and two beta-globin chains. Defects in the alpha-globin chain cause alpha thalassemia, and defects in the beta-globin chain cause beta thalassemia. If any of these globin chains are deficient, the red blood cells are damaged and destroyed.
You inherit the gene defect for beta thalassemia in an autosomal recessive pattern . This happens when both biological parents carry one copy of the defective gene and one copy of the normal gene. In the most severe form of beta thalassemia, you inherit one copy of the defective gene from both parents.
However, very rarely, beta thalassemia can be caused by inheriting just one defective beta-globin gene. This is called an autosomal dominant pattern .
What are the types of beta thalassemia?
The severity of your condition depends on the number of defective genes you inherit and the location of the defect. Some gene defects cause no beta-globin to be produced at all (called beta-zero thalassemia ). Other defects cause very little beta-globin to be produced (called beta-plus thalassemia ).
There are a few main types of beta thalassemia:
- Beta thalassemia major (Cooley's anemia): This is the most severe form of beta thalassemia. In this, both beta-globin genes are missing or defective. Beta thalassemia major is now called "transfusion-dependent thalassemia" because people with this condition require lifelong blood transfusions.
- Beta thalassemia intermedia: This can cause mild to moderate anemia. In this condition, both beta-globin genes are missing or defective. However, people with beta thalassemia intermedia usually do not need to donate blood for the rest of their lives.
- Beta thalassemia minor (also known as beta thalassemia trait): This is a condition that often causes mild anemia. Only one beta-globin gene is missing or defective. Some people with beta thalassemia minor may not have any symptoms.
What are the symptoms of beta thalassemia?
Your symptoms will depend on how severe your beta thalassemia is. For example, someone with beta thalassemia minor may be asymptomatic or may have very mild anemia. People with beta thalassemia intermedia and especially beta thalassemia major may have moderate or more severe symptoms.
Mild symptoms
Beta thalassemia minor (beta thalassemia trait) is commonly associated with mild anemia symptoms such as:
- Frequent fatigue .
- Dizziness or weakness .
- Frequent headaches .
- Pale skin .
Moderate and severe symptoms
The most severe symptoms are associated with beta thalassemia major. Some of these symptoms, depending on the severity of your condition, may also be present in people with beta thalassemia intermedia. In addition to milder symptoms, you may experience:
- Difficulty breathing during exercise.
- Increased heart rate ( palpitations ).
- Yellowing of the skin or whites of the eyes ( jaundice ).
- Dark or tea-colored urine.
- Slow growth or delayed development.
- Abdominal bloating .
- Weakening or deformity of the bones of the arms, legs, and face.
Young babies with moderate or severe beta thalassemia can be especially restless , and they may also get infections frequently.
How is beta thalassemia diagnosed?
Beta thalassemia is often diagnosed in childhood . The most severe form, beta thalassemia major, is diagnosed before the age of 2, meaning in early childhood. Your doctor will diagnose beta thalassemia based on your symptoms and blood test results.
What are the diagnostic tests?
Your doctor will diagnose beta thalassemia by taking a simple blood sample and analyzing it. Tests may include:
- Complete Blood Count (CBC): A CBC test gives information about your blood cells, including your red blood cells. It can show if you have a low number of red blood cells, if they are smaller than normal, have an odd shape, or are pale (light red). These symptoms can be signs of thalassemia.
- Reticulocyte count: Immature red blood cells are called reticulocytes. A low reticulocyte count means that your body is not making enough red blood cells. However, in thalassemia major, the reticulocyte count is usually elevated. This is because your body is trying to make more red blood cells to compensate for the destruction of red blood cells with abnormal hemoglobin.
- Molecular genetic testing: This test allows your doctor to closely examine your hemoglobin and identify the genetic defect associated with beta thalassemia.
- Hemoglobin electrophoresis: This test measures the different types of hemoglobin proteins in your blood. In beta thalassemia, some types of hemoglobin proteins are increased, while others are decreased.
If there is a suspicion that your unborn baby may have inherited the defective gene, your doctor may perform a test called Chorionic Villus Sampling (CVS) or Amniocentesis during pregnancy. CVS tests a portion of the placenta to look for signs of the genetic defect. The placenta is the organ that helps you and your baby exchange nutrients during pregnancy. Amniocentesis tests the fluid around your baby to look for signs of beta thalassemia.
How is beta thalassemia treated?
You will often have to work with a care team that includes various specialists. It is especially important to work with a specialist who treats blood-related diseases, a hematologist .
Treatment options may include:
- Blood transfusions: A person with beta thalassemia major may need to donate blood frequently (perhaps every two weeks). During this process, you receive blood from a donor. The red blood cells from this blood donation help carry oxygen to tissues throughout the body.
- Iron chelation therapy: Iron is an important part of the hemoglobin protein that helps carry oxygen. However, too much iron can be harmful. Iron chelation therapy can prevent iron overload.
- Folic acid supplements: Folic acid can help your body make red blood cells. If you have beta thalassemia minor, your doctor may recommend this supplement. If your condition is severe, you may need to take folic acid in addition to donating blood regularly.
- Luspatercept: If you have thalassemia major, you may be given an injection called luspatercept every three weeks to help your body make more red blood cells. Luspatercept helps reduce anemia in beta thalassemia patients who donate blood.
- Bone marrow and stem cell transplant: You can receive bone marrow stem cells from a donor. These stem cells will later become red blood cells. Beta thalassemia can be cured by replacing your bone marrow stem cells with stem cells from a healthy donor. However, finding a matching donor can be challenging. Also, this type of transplant is considered a high-risk procedure.
What are the complications or side effects of the treatment?
The most common complication of blood donation is iron overload . When you donate blood, your body receives extra red blood cells and iron. When you donate blood repeatedly, this excess iron can build up and damage vital organs like the liver, heart, and pancreas. If you are a frequent blood donor, talk to your doctor about how often you should take iron chelation therapy to remove excess iron from your body.
How can you reduce the risk of developing beta thalassemia?
You can't reduce your risk of inheriting a gene defect associated with beta thalassemia. However, you can prevent your child from inheriting it. If you or your partner are at risk of being a carrier of this gene defect and are hoping to have a child, talk to your doctor about being screened for beta thalassemia.
Can beta thalassemia be cured?
The only current cure for beta thalassemia is a bone marrow and stem cell transplant from a matched donor. However, finding a matched donor is often difficult. Even family members may not be considered as suitable donors.
Researchers are currently studying other treatments for beta thalassemia, such as replacing defective genes with healthy ones ( gene therapy ). This work is still in its early stages.
What is the life expectancy of someone with beta thalassemia?
Beta thalassemia is a treatable disease . People with mild and moderate forms of beta thalassemia, such as minor and intermedia, can expect a normal life expectancy if they follow their doctor's treatment instructions. However, beta thalassemia major can shorten their life expectancy. The most common cause of death in this condition is heart failure caused by iron overload.
Talk to your doctor about your prognosis based on the severity of your condition.
What questions should I ask my doctor?
Ask your doctor how often you should have blood tests and treatments, and what lifestyle changes you should make to manage your condition.
Some questions you can ask:
- What type of beta thalassemia do I have?
- What kind of treatment will I need to manage my condition?
- How can the risk of complications from treatment be reduced?
- How often should I have blood tests to monitor my condition?
- What kind of blood tests will I get?
- What lifestyle changes (e.g., diet, exercise) do I need to make to manage my condition?
- Am I a candidate for a stem cell transplant?
- What are the chances that my children will also develop beta thalassemia?
How you experience beta thalassemia depends on how severe your condition is. Regardless of the type of beta thalassemia, it is important to work with specialists who are experienced in diagnosing and treating thalassemia.
Getting the right treatment can prevent anemia and reduce the risk of complications like iron overload.
Working with a healthcare team that closely monitors your condition and provides a customized care plan can help improve your prognosis.
Finally, things to remember
Beta Thalassemia is not something to be afraid of, but it is a condition that needs to be managed properly . If you or someone you know has this condition, it is very important to follow proper medical advice, get the necessary tests and treatment . Remember, you are not alone, and there are doctors and health workers who can help you. So, don't be afraid to talk to them if you have any questions. We hope this information will help you live a healthy life!
` Beta thalassemia, thalassemia, anemia, hemoglobin, genetic mutations, blood donation, iron overload
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