Beta and Alpha Thalassemia

What is Thalassemia?

Thalassemia is an inherited blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. People with thalassemia have abnormal hemoglobin production, which can result in anemia, a condition where there are not enough red blood cells to carry oxygen throughout the body.

There are two main types of thalassemia: alpha thalassemia and beta thalassemia. Alpha thalassemia occurs when there is a problem with the production of alpha globin chains, while beta thalassemia occurs when there is a problem with the production of beta globin chains. The severity of thalassemia depends on how many globin chains are affected and how severely they are affected.

Globin Chains

 
Globin chains are protein chains that make up the globin family of proteins, which are essential components of hemoglobin. Hemoglobin is a protein found in red blood cells that is responsible for carrying oxygen from the lungs to the body's tissues.

There are four main types of globin chains: alpha, beta, gamma, and delta. In humans, alpha and beta chains combine to form adult hemoglobin (HbA), while gamma and delta chains combine to form fetal hemoglobin (HbF).

The globin chains are made up of a sequence of amino acids and have a unique three-dimensional structure that allows them to bind to oxygen molecules. The specific combination of globin chains in hemoglobin determines its properties, such as its oxygen-binding capacity and affinity.

Mutations in the globin genes can result in disorders such as sickle cell anemia and thalassemia, which affect the production or function of hemoglobin and can lead to anemia and other health problems.

Thalassemia Symptoms


Symptoms of thalassemia can include fatigue, weakness, shortness of breath, pale skin, and yellowing of the skin and eyes. In severe cases, thalassemia can lead to complications such as heart problems, bone deformities, and an increased risk of infections.

Thalassemia Treatment


Treatment for thalassemia may include blood transfusions, iron chelation therapy to remove excess iron from the body, and bone marrow transplantation in severe cases. People with thalassemia may also benefit from regular medical check-ups and ongoing management of their condition by healthcare professionals.

Thalassemia major is the most severe form of the disorder and requires lifelong transfusion therapy. Patients with thalassemia major usually receive a transfusion of packed red blood cells every two to four weeks, depending on their individual needs. The goal of transfusion therapy is to maintain a normal hemoglobin level and prevent complications such as anemia, fatigue, and organ damage.

Blood transfusions can cause complications, such as iron overload, which can damage organs such as the heart and liver. To prevent this, patients with thalassemia who receive regular transfusions may also require chelation therapy, which involves taking medication that binds to excess iron in the body and helps it to be eliminated.

Alpha thalassemia 

 
A type of thalassemia, an inherited blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. Alpha thalassemia occurs when there is a problem with the production of alpha globin chains, which can lead to anemia, a condition where there are not enough red blood cells to carry oxygen throughout the body.

Alpha thalassemia can be divided into four main types, depending on how many alpha globin chains are affected:
  • Alpha thalassemia silent carrier: One of the four alpha globin genes is missing or altered, but the person does not experience any symptoms of anemia.
  • Alpha thalassemia trait: Two of the four alpha globin genes are missing or altered, and the person may experience mild anemia.
  • Hemoglobin H disease: Three of the four alpha globin genes are missing or altered, and the person experiences moderate to severe anemia and may require blood transfusions.
  • Hydrops fetalis (alpha thalassemia major): All four alpha globin genes are missing or altered, and the condition is usually fatal before or soon after birth.

Beta thalassemia 

 
A type of thalassemia, an inherited blood disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. Beta thalassemia occurs when there is a problem with the production of beta globin chains, which can lead to anemia, a condition where there are not enough red blood cells to carry oxygen throughout the body.

Beta thalassemia can be divided into two main types: thalassemia major and thalassemia intermedia. Thalassemia major is the most severe form of beta thalassemia, and people with this condition require regular blood transfusions to manage their anemia. This is typically known as Transfusion Dependent Beta Thalassemia major.

 Thalassemia intermedia is a milder form of beta thalassemia, and people with this condition may not require regular transfusions but may experience symptoms such as fatigue, weakness, and shortness of breath.