Beta Thalassemia - Causes, Symptoms, Diagnosis, and Treatment

What Is Thalassemia?

Thalassemia is a hereditary blood illness characterized by the body's production of an abnormal type of hemoglobin. Hemoglobin is an oxygen-transporting protein molecule found in red blood cells. Anemia is caused by an abnormal breakdown of red blood cells. When the body does not produce enough healthy red blood cells, then anemia will be present. This genetic anomaly is inherited from the parents, who are carriers. It is caused by a genetic mutation or the loss of specific critical gene segments. Therapy is not required if it is moderate thalassemia. More severe cases, on the other hand, may necessitate regular blood transfusions.

What Is Beta Thalassemia?

Beta-thalassemia is a blood condition in which the body produces less hemoglobin. Low hemoglobin levels result in a lack of mature red blood cells and a shortage of oxygen in the body. Anemia in people with beta-thalassemia can cause paleness, weakness, tiredness, and other significant problems. Thalassemias are classified as quantitative hemoglobin illnesses since they are caused by mutations in either the alpha- or beta-globin gene. Because of these alterations, little or no globin is formed. Beta thalassemias are caused by hemoglobin subunit beta (HBB) abnormalities. Patients suffering from this illness may require blood transfusions. Frequent blood transfusions in some people might result in severe iron overload disorders.

What Are the Different Types of Beta Thalassemia?

Depending on the type of illness inherited, different persons will have various symptoms. The intensity of the symptoms distinguishes them into three forms of beta-thalassemia. A deficiency in the gene that regulates hemoglobin synthesis causes beta-thalassemia. There are three kinds:

• Beta Thalassemia Major (Cooley's Anemia)- The most serious form of beta-thalassemia. It is most commonly discovered in the first two years of life. Blood transfusions are frequently required for children. Because iron excess is common, this can lead to serious complications.

• Beta Thalassemia Minor(Beta Thalassemia Trait)- People with beta thalassemia minor may experience mild anemia, but they rarely require medical treatment. These are beta-thalassemia carriers.

• Beta Thalassemia Intermedia- People who have beta-thalassemia intermedia suffer from moderately severe anemia, and some will require blood transfusions and other medical treatment. Blood transfusions provide the body with healthy hemoglobin and RBCs. It could also be due to abnormal hemoglobin. It is possible that more than one type of abnormal hemoglobin is present. It is frequently discovered later than beta thalassemia major. Transfusions are rarely required.

What Are the Signs and Symptoms of Beta Thalassemia?

Beta thalassemia's main symptoms appear between the ages of six and 24 months in a newborn. They are as follows:

• Insufficient growth and development.

• Feeding problems in people with fair skin.

• Diarrhea.

• Irritation and squeamishness.

• Fever.

• A swollen spleen results in a swollen abdomen.

Symptoms of beta thalassemia intermedia appear later in life and include:

• Pale or yellow skin tone.

• Gallstones.

• Enlargement of the liver and spleen.

• Changes in the bones.

• Sores or ulcers on the legs.

• Bones become brittle.

• Diabetes.

People with beta-thalassemia minor have anemia but do not always show symptoms.

What Are the Causes of Beta Thalassemia?

The disorder is caused by a loss of genetic material (deletion) that includes the HBB gene. The decrease in beta-globin causes an imbalance in alpha and beta-globin levels. Genes encode instructions for the production of proteins, which are essential for many bodily functions. When a gene is mutated, the protein product may be faulty, inefficient, or completely absent. Depending on the functions of the specific protein, this can have an impact on many organ systems in the body. This imbalance causes anemia as well as other beta-thalassemia-related medical problems. People inherit the genes for producing beta and alpha-globin from their parents. Hemoglobin is formed when alpha and beta globins combine to form hemoglobin, which is found inside red blood cells. Individuals with beta thalassemia minor carry the disorder because of a mutation in one of the HBB genes. Mutations in both HBB genes are found in people with beta-thalassemia intermedia or major.

How Is Beta Thalassemia Diagnosed?

The symptoms and medical history of the patient will be discussed with the healthcare practitioner. The physician will perform a physical examination on the patient. The patient may also be subjected to tests such as:

• Total Blood Count (CBC)- A complete blood count looks at red and white blood cells, blood clotting cells (platelets), and juvenile red blood cells. Hemoglobin and hematocrit are included, as well. Blood is drawn from a vein during this test.

• Smear in the Periphery- A small sample of blood is examined under a microscope to see if it contains any abnormalities.

• Electrophoresis of Hemoglobin- This procedure determines the type and amount of hemoglobin present in the blood.

• Iron Research- Anemia caused by iron deficiency can be diagnosed through these tests.

• DNA Analysis - These tests check for mutations in genes. DNA testing can identify alpha thalassemia carriers.

• Chorionic Villus Sampling (CVS)- Around 11 weeks into pregnancy, a tiny piece of the placenta is removed for testing this condition.

• Amniocentesis- This procedure, which is usually performed around 16 weeks into a pregnancy, involves removing a sample of the fluid that surrounds the fetus to check for signs of problems.

What Are the Treatments for Beta Thalassemia?

Treatment is determined by the type of beta-thalassemia. Children with the beta thalassemia trait do not require treatment. Children with major beta-thalassemia require lifelong medical care. They are also mainly dependent on symptoms, age, and overall health. It is also important to take into account the severity of the condition. Treatment options include:

• Regular blood transfusions.

• Medicines to remove excess iron from the body (known as iron chelation therapy).

• If needed, the spleen is removed.

• Taking folic acid.

• Gallbladder removal.

• Bone marrow transplantation.

• Transplantation of stem cells or cord blood.

What Are the Consequences of Beta Thalassemia?

The complications of beta thalassemia differ depending on the type. Thalassemia minimal is a minor condition that causes no problems. However, it will be a carrier of the disease. Depending on the severity of the anemia, thalassemia intermedia may develop complications. Beta thalassemia major is a potentially fatal condition. Possible complications include developmental delays, bone problems that cause facial changes, liver and gallbladder problems, enlarged spleen, enlarged kidneys, diabetes, hypothyroidism, and heart problems.

Conclusion

Thalassemia is a hereditary blood disorder. It is a blood disorder marked by low levels of an oxygen-carrying protein. One of the most common thalassemia conditions is beta-thalassemia. It reduces hemoglobin production in the body. Depending on the type of beta-thalassemia inherited, different people will experience different symptoms. As a result, regular blood transfusions are required as part of the treatment. Treatment for iron excess is required after years of transfusions. Beta-thalassemia can be treated with medications and frequent blood transfusions. This condition could be managed by staying healthy and avoiding any negative consequences.