Thalassemia – A Genetic Condition

Thalassemia is a genetic blood disorder that affects the production of haemoglobin, a protein in red blood cells that carries oxygen from the lungs to the rest of the body. Haemoglobin is composed of two types of protein chains: alpha and beta. In thalassemia, there is a deficiency or malfunction in the production of one or both of these protein chains. This results in reduced haemoglobin levels, leading to a reduced oxygen-carrying capacity of the red blood cells.

The two main forms of thalassemia are Alpha Thalassemia and Beta Thalassemia.

Alpha thalassemia: Alpha thalassemia is caused by a deficiency in the production of alpha globin, one of the two proteins that make up haemoglobin. There are four genes that control the production of alpha globin, and if any one of these genes is missing or defective, alpha thalassemia results. There are three types of alpha thalassemia: silent carrier, alpha thalassemia trait. Third type where foetus with all defective alpha thalassemia genes (hydrops fetalis) do not survive, hence abort or die immediately at birth.

Beta thalassemia: Beta thalassemia is caused by a deficiency in the production of beta globin, the other protein that makes up hemoglobin. There are two genes that control the production of beta globin, and if any one of these genes is missing or defective, beta thalassemia results. There are two main types of beta thalassemia: beta thalassemia minor (also known as beta thalassemia trait) and beta thalassemia major.

Beta thalassemia minor, or beta thalassemia trait, is a mild form of the disease in which the body produces some hemoglobin, but not enough to maintain optimal health. People with beta thalassemia minor often have no symptoms, but some may experience mild anemia.

Beta thalassemia major, also known as Cooley's anemia, is a severe form of the disease that results in a complete deficiency of hemoglobin. People with beta thalassemia major require regular blood transfusions and may also require chelation therapy to remove excess iron from the body.

The symptoms of thalassemia vary depending on the severity of the condition, but can include:

  • Fatigue and weakness: People with thalassemia often feel tired and weak due to anemia, which is a condition that occurs when there is a shortage of red blood cells in the body.
  • Pale skin: People with thalassemia may have pale skin due to the lack of hemoglobin in the blood.
  • Slow growth and development: Children with thalassemia may have slow growth and developmental delays.
  • Enlarged spleen: The spleen may enlarge in people with thalassemia, which can lead to a condition called splenomegaly.
  • Bone deformities: People with thalassemia may develop bone deformities in the face, such as cheekbones that stick out, and an enlarged forehead.
  • Yellowing of the eyes and skin: Jaundice, or yellowing of the skin and eyes, can occur in people with thalassemia.
  • Shortness of breath: People with thalassemia may experience shortness of breath due to the lack of hemoglobin in the blood, which leads to a shortage of oxygen in the body.
  • Chest pain: People with thalassemia may experience chest pain due to the strain on the heart from the increased workload of pumping blood without enough oxygen.

It's important to note that symptoms of thalassemia can vary greatly from person to person, and some people with the condition may not experience any symptoms at all. In addition, the severity of symptoms may also change over time as the disease progresses.

Diagnosis of thalassemia is typically done through a combination of blood tests and genetic testing. Treatment options include regular blood transfusions, iron chelation therapy, and bone marrow transplantation is the curative option.

It is important for individuals with a family history of thalassemia to be tested, as early diagnosis and treatment can greatly improve their quality of life. Additionally, carriers of thalassemia can take steps to prevent passing the condition on to their children, such as genetic counselling and prenatal screening. If you suspect you or a loved one may have thalassemia, it is important to speak with a healthcare provider for a proper diagnosis and treatment plan.

Dr. Satyaranjan Das
Department of Hemato-Oncology & Bone Marrow Transplant
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