Beta Thalassemia: Types, Causes, Symptoms, and Treatment:

Beta thalassemia is a genetic disorder in which the production of hemoglobin is impaired. Hemoglobin is an important protein in the red blood cells that supplies oxygen to the whole body. When the oxygen level becomes low in the entire body, it can cause symptoms ranging from mild to severe. A low level of hemoglobin can lead to anemia and it can severely affect your daily life with fatigue and weakness. 
Beta thalassemia in the mild form may need some supportive therapy or lifestyle changes like a healthy diet and regular physical activity. In the severe forms of beta thalassemia, proper medical treatment with medications and stem cell therapy is required.

What is beta Thalassemia? 

Beta thalassemia is a condition in which beta chains of hemoglobin are defective. These defective hemoglobin chains destroy the red blood cell’s structure and function. Due to this, red blood cell count becomes low in the body and leads to anemia. When anemia occurs, it can affect the energy-consuming ability of each type of cell and tissue in the body and can cause various problems in each system in the human body. 
Anemia caused by beta thalassemia can occur either in mild form or in severe form.

What are the types of beta Thalassemia?

Beta thalassemia has many types according to the type and location of genetic changes. Your doctor may perform some genetic tests to rule out the type of beta thalassemia you have. Some of these types of beta thalassemia include
Beta thalassemia minor
In beta thalassemia minor, the defective genes cause low production of globin chains but are not completely absent. In this type, you may experience mild symptoms of anemia or you may not even be aware of the condition.
Beta thalassemia intermedia
Beta thalassemia intermedia can lead to moderate symptoms of anemia because you may have two defective genes responsible for the production of globin chains in the hemoglobin protein. You may need medical treatment for such type of beta thalassemia.
Beta thalassemia major
The most severe type of beta thalassemia is beta thalassemia major. You may experience severe types of symptoms of anemia and require blood transfusions for your whole life. For this reason, this type of thalassemia is also known as transfusion-dependent thalassemia.
Difference between alpha and beta thalassemia
Alpha-thalassemia is caused when the body doesn't make enough alpha-globin chains, and beta-thalassemia is caused when the body doesn't make enough beta-globin chains. When there aren't enough of these chains, it can lead to the destruction of red blood cells and make it difficult for the body to produce new ones.

What are the causes of Beta Thalassemia?

Beta thalassemia occurs due to the changes in the genes that are responsible for making hemoglobin. This is a genetic condition which means you may get it from your parents. You may inherit one defective gene from each of your parents that occurs in beta-thalassemia major. The defective genes may have the following errors

• Genetic mutations
• Deletion or point mutations in the beta-globin gene
• Reduced or absent production of beta-globin chains
• Imbalanced alpha-to-beta-globin chain ratio
• Excess alpha-globin chains causing red blood cell damage

Symptoms that can occur in Beta Thalassemia

Symptoms can vary for each type of beta thalassemia. For example, if you have beta thalassemia minor, you may notice mild symptoms of anemia. But in the severe cases of thalassemia such as in thalassemia major, you may need medical attention, blood transfusion, and supportive therapies for your whole life. 

Symptoms in Beta Thalassemia Minor

• Mild anemia
• Slight fatigue or weakness
• Pale skin
• Slightly enlarged spleen

Symptoms in Beta Thalassemia Major

• Severe anemia
• Fatigue and weakness
• Developmental delays in children
• Jaundice 
• Pale or sallow skin
• Enlarged spleen and liver
• Bone deformities
• Delayed puberty
• Increased susceptibility to infections
• Heart complications due to iron overload 
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What are the Risk Factors for Beta Thalassemia?

You should be aware of the risks of beta thalassemia if anyone from your family is suffering from the condition. You may be the carrier of the defective gene and can pass it to your children. Some of the risk factors of beta thalassemia are as follows:
Family History
Thalassemia is a genetic condition. Therefore, having a family history of beta thalassemia raises the risk of developing the disease. The child could either carry the gene or be affected by thalassemia.
Ethnicity
Some nations have a higher prevalence of genetic defects leading to thalassemia. This condition is most prevalent in populations from Mediterranean, African, Middle Eastern, and South Asian countries.
Gene Carrier
Individuals who carry the gene for thalassemia are generally not affected by the condition. However, if they pass on the faulty gene to their children, it may result in the disease. Carriers have an elevated risk of having children with thalassemia if they marry someone with the same faulty gene.
Genetic Mutations
Beta Thalassemia arises from mutations in genes responsible for producing hemoglobin. The severity of beta thalassemia is determined by the specific type of gene defect.
Cousin marriages
Marriage between close relatives can increase the chances of thalassemia. If both parents carry the same beta-thalassemia gene defect, it may result in their child being born with beta-thalassemia.

How is Beta Thalassemia Diagnosed?

Your doctor may suggest some of the following tests before diagnosing beta thalassemia. Diagnostic tests are also performed so that your symptoms can be managed with proper medications and procedures according to your needs.
CBC (Complete Blood Count)
A CBC is a blood test that gives information about blood cells. If the CBC indicates a low level of red blood cells and reduced hemoglobin levels, it could be an indicator of beta thalassemia.
Hemoglobin Electrophoresis
This test helps in identifying the specific type of beta thalassemia in the diseased condition and distinguishing it. It can also detect the abnormal hemoglobin production that leads to thalassemia.
Iron Level in Blood
It is crucial to differentiate beta thalassemia from anemia. Beta thalassemia usually shows normal or increased iron levels, while iron deficiency anemia always indicates low iron levels in the blood.
Genetic Testing
Genetic testing is the most precise method for diagnosing beta thalassemia. It also reveals the specific gene defect involved. Typically, the blood sample is tested in laboratories and can also indicate the type and severity of thalassemia it can cause.
Physical Examination
During the physical examination for beta-thalassemia, signs and symptoms such as pale skin, enlarged spleen, and abnormal bone structure are often observed. It can also be correlated with the patient's medical history to diagnose the condition.

What are the Treatment Options for Beta Thalassemia?

The type of treatment used for thalassemia depends on the type and severity of the disease. Your doctor may evaluate your condition properly before suggesting any of the treatments. Because the efficacy of each treatment can vary according to the specific type of beta-thalassemia. Some common types of treatment are:
Blood transfusion: Blood transfusions are essential for individuals with beta thalassemia to ensure that healthy red blood cells are distributed throughout the body which are essential to supply oxygen for proper cell functioning.
Iron therapy: Iron chelation therapy is used to remove excess iron accumulated in the body due to frequent blood transfusions, which can have adverse effects.
Splenectomy: In cases where the spleen is damaged and excretes an excessive amount of red blood cells leading to anemia, splenectomy is performed which is a procedure to remove the spleen.
Folic Acid: Supplementing with folic acid is important as it supports the production of new red blood cells in the body, often used in conjunction with gene therapy to help in the formation of new red blood cells after treatment like stem cell transplant.
Gene Therapy: Gene therapy involves removing the defective gene causing the damage and replacing it with a new healthy gene to completely cure the disease. However, this treatment is an experimental stage for beta thalassemia.
Stem Cell Transplantation: Stem cell transplantation involves the production of blood cells from stem cells in the bone marrow. For beta-thalassemia patients, this transplant can effectively generate new red blood cells and proves to be cost-effective over an extended period.

Possible Complications After Diagnosis of Beta Thalassemia

After beta thalassemia, you can feel chronic fatigue and weakness due to low energy levels because of the limited supply of oxygen to tissues in the body. Beta thalassemia also causes various problems in cardiovascular problems such as heart failure, arrhythmias, etc. Due to the massive destruction of red blood cells in the spleen, it can lead to enlargement. 
After beta thalassemia, blood transfusions are required for the management of the disease but it can cause iron overload in the body and can further deteriorate heart and lung functions. Beta thalassemia can also lead to bone deformities and osteoporosis where bones become fragile and easy to break. Because of these complications, it is very important to treat and manage the disease according to the needs and suitability of each patient with beta-thalassemia.