Different types of thalassemia, their characterics, and treatment options explained

Every year, World Thalassemia Day is observed on May 8 to raise awareness about thalassemia, a chronic blood disorder, among the public and policymakers. Launched the Thalassemia International Federation, the day also aims to promote and strengthen the morale of those who have battled the fatal disease for years.
What is thalassemia?
Thalassemia is an inherited genetic hemoglobinopathy, a group of disorders that lead to defective production of haemoglobin synthesis in the body. This results in low production of red blood cells and a lack of oxygenated blood supply to the body parts, explained Dr Preetam Jain, Medical Oncolog, Bhatia Hospital, Mumbai.
Adding that thalassemia is an inherited blood disorder, meaning at least one of the parents must be a carrier of the same, the expert said that it is caused “either a genetic mutation or a deletion of certain key gene fragments.” “There is diminished or absent production of globin chains. This results in imbalanced globin chain production, which leads to tetramers and chronic hemolysis (premature destruction and shortened red blood cell life span),” he told .
While some of the common symptoms include anemia, fatigue, enlarged liver and spleen, growth impairment, skeletal deformities, leg ulcers and infections, hemolytic facies, frequent transfusions, and iron overload, experts pointed out that these can vary. “Additionally, anybody can develop this genetic disease, but those with a family hory have a higher risk. It is seen in high frequency in parts of Africa, the Mediterranean region, the Middle East, and Asia. It is also found in malaria-endemic areas.”
Different types of thalassemia
Thalassemia is mainly classified into two types: Alpha-thalassemia and Beta-thalassemia. “The main difference between these two is the involvement of alpha chain and beta chain production (of hemoglobin) respectively and clinical presentation. The thalassemia you have depends on whether your alpha or beta chain contains the genetic defect,” elucidated Dr Chain.
Thalassemia is an inherited blood disorder, meaning at least one of the parents must be a carrier of the disorder. (Source: Freepik)
Alpha thalassemia
In alpha thalassemia, the haemoglobin does not produce enough alpha protein. The severity depends on how many genes are mutated.
*One mutated gene: Alpha thalassemia minima is when the person has no symptoms. It happens when a healthy person who has a child with symptoms of thalassemia is a carrier.
*Two mutated genes: Alpha thalassemia minor is when person has mild anemia.
*Three mutated genes: Hemoglobin H disease is a type of chronic anemia.
*Four mutated genes: Alpha thalassemia major is the most severe form of alpha thalassemia.

Beta thalassemia
A person needs two globin genes to make beta-globin chains — one from each parent.
*Beta thalassemia minor (beta thalassemia trait) involves having one missing or defective beta-globin gene. Some people with beta thalassemia minor don’t have symptoms at all.
*Beta thalassemia intermedia may cause mild to moderate anemia symptoms. It involves having two missing or defective beta-globin genes.
*Beta thalassemia major (Cooley’s anemia) is the most severe kind of beta thalassemia. It involves having two missing or defective beta-globin genes. It is also known as “transfusion-dependent thalassemia” because people with this condition require lifelong blood transfusions.
Depending on the type of thalassemia, constant medical care may be necessary to manage the condition effectively. “It can be treated through transfusion support, folate supplements, bone marrow transplant, chelating agents for iron overload management, nutrition support and genetic counselling and screening of the family members,” concluded Dr Jain.
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