All you need to know about Thalassemia

Thalassemia is a genetic blood disorder characterized by abnormal hemoglobin production, leading to inadequate red blood cell production. Understanding the intricacies of this condition is crucial for patients. Let's understand what thalassemia entails, its prevention , precautions, and symptoms.

What is Thalassemia?

Thalassemia originates from mutations in the genes that are responsible for producing hemoglobin. Hemoglobin is essential for carrying oxygen throughout the body via red blood cells. Individuals with thalassemia often experience anemia , fatigue, and other complications due to the decreased oxygen-carrying capacity of their blood.

Types of Thalassemia

There are two main types of thalassemia: alpha and beta thalassemia, each with various subtypes. The severity of symptoms depends on the specific mutations present in an individual's genes.

Who is Prone to Thalassemia?

Thalassemia is more prevalent in certain ethnic groups, including individuals of Mediterranean, Middle Eastern, Southeast Asian, and African descent. Moreover, individuals with a family history of thalassemia are at higher risk of inheriting the disorder.

Prevention and Precautions

While thalassemia is a genetic disorder however it is a preventable condition. Genetic counseling plays a crucial role in identifying individuals at risk of passing on thalassemia to their offspring. Prenatal testing can also provide valuable information to expectant parents about the likelihood of their child inheriting the disorder. Screening of the general population especially in young adults before starting families would go a long way in preventing this condition. Testing of the expectant mothers in the first trimester for Thalassemia trait should be made mandatory.

Symptoms of Thalassemia

Symptoms of thalassemia vary depending on the type and severity of the condition. Common signs include fatigue, weakness, pale skin, jaundice, and bone deformities. Severe cases may require blood transfusions and other supportive treatments to manage complications such as iron overload.

Thalassemia is a complex genetic disorder that requires careful management and understanding. By recognizing the symptoms, taking preventive measures, and seeking appropriate medical care, individuals with thalassemia can lead fulfilling lives despite the challenges posed by the condition.

(Dr. Sunil Bhat, Director and Clinical Lead - Pediatric Hematology, Oncology and BMT
Narayana Health Network Hospitals)