World Thalassemia Day 2024: What Is Thalassemia? Know Myths And Facts About This Disorder

Thalassemia is a genetic blood disorder that manifests differently in each individual due to the varied mutations in the genes responsible for haemoglobin production.

World Thalassemia Day is observed on May 8 to raise awareness about the genetic blood disorder that affects haemoglobin production in the body. Explaining what thalassemia is, Dr Priti Mehta - Consultant Paediatric Haematology, Oncology and BMT, SRCC Children’s Hospital said, "Thalassemia is a genetic blood disorder that manifests differently in each individual due to the varied mutations in the genes responsible for haemoglobin production."

"Some inherit severe forms requiring lifelong management, while others may have milder symptoms. Understanding one's genetic makeup through screening helps tailor treatment. Precautions involve regular blood transfusions and iron chelation therapy to manage iron overload. Bone marrow transplant is a curative therapy. Advances in gene therapy offer hope for a cure, potentially correcting the faulty genes responsible for thalassemia," she added.

Care, Precautions And Cure:

Thalassemia's etiology lies in genetic mutations affecting haemoglobin production, presenting a spectrum of severity among individuals. From silent carriers to those with severe anemia, the manifestations vary.

Dr. Sunil Bhat, Director and Clinical Lead - Pediatric Hematology, Oncology and BMT at Narayana Health Network Hospitals said, "Personalised care involves genetic testing to determine the specific mutations and subsequent management. Precautions entail avoiding iron-rich foods and regular blood transfusions to alleviate anemia and prevent complications like organ damage. Currently cure is possible with Bone Marrow Transplant. Emerging therapies, including gene editing techniques like CRISPR, hold promise for a cure by correcting the underlying genetic defects, offering a beacon of hope for those affected by thalassemia."

Tips For Parents If Your Children Have Thalassemia

Caring for a child with Thalassemia demands patience and understanding. Dr Priti Mehta - Consultant Paediatric Haematology, Oncology and BMT, SRCC Children’s Hospital said, "In navigating the complexities of Thalassemia, parents serve as pillars of strength and advocates for their child's well-being. Parents must cultivate a supportive network, including medical professionals and support groups, to share experiences and resources and build a nurturing environment that promotes physical and emotional health."

In addition, Dr. Sunil Bhat listed the following dos and don'ts that parents should keep in mind if their child suffers from Thalassemia:

Dos:

• Educate yourself about the condition to empower informed decisions.


• Ensure regular blood transfusions and monitor iron levels meticulously.


• Encourage a balanced diet rich in, vitamins, and minerals.


• Foster emotional support, as coping with chronic illness can be challenging.

Don'ts:

• Avoid unnecessary stress or guilt, instead focus on proactive management.


• Refrain from neglecting regular medical appointments or treatment plans.


• Don't let Thalassemia define your child; celebrate their achievements beyond the condition.


• Prioritise open communication within the family to address concerns and fears. 

Myths And Facts About Thalassemia Major:

Thalassemia major, also known as Cooley’s anemia, is a severe form of thalassemia, an inherited blood disorder characterised by reduced production of haemoglobin. This condition can lead to a range of complications and requires ongoing medical management. 

Here are some facts and myths about thalassemia major listed by Dr Vijay Ramanan, Sr. Consultant Clinical Haematologist, Bone Marrow & Stem Cell Transplant, Ruby Hall Clinic, Pune

1. Thalassemia major is contagious: 

Thalassemia major is a genetic disorder and cannot be transmitted from person to person through contact.

2. People with thalassemia major cannot have children:

People with thalassemia major can have children, but they should consult with a genetic counsellor to understand the risks of passing the condition to their offspring.

3. All cases of thalassemia major are the same:

Thalassemia major can vary significantly in severity depending on the specific genetic mutations involved. Treatment plans must be personalised for each individual.

4. Transfusions alone can fully manage thalassemia major:

While blood transfusions are essential for managing anaemia, they are not a cure. Iron overload from transfusions can lead to serious complications without chelation therapy.

5. People with thalassemia major cannot live normal lives:

While the condition requires careful management, individuals with thalassemia major can lead active lives, pursue education and careers, and participate in many activities.