World Thalassemia Day 2024: Decoding myths and facts related to this blood disorder

Thalassemia major follows an autosomal recessive pattern, requiring both parents to carry a mutated gene for their child to inherit the condition. (Image: Canva)

India has the highest number of patients with Thalassemia Major, which is a severe inherited blood disorder. The country’s large population and high birth rate result in a significant number of people being affected by genetic disorders. However, there is a lack of sufficient awareness and education about Thalassemia and genetic counseling among the general public, which leads to inadequate preventive measures. The practice of prenatal and pre-marital screening for Thalassemia is not uniformly followed across the country.

Let’s decode some myths and facts related to Thalassemia suggested by Dr Vijay Ramanan, Sr consultant clinical haematologist, bone marrow and stem cell transplant, Ruby Hall Clinic, Pune.

Myths:

Contagion: Thalassemia major is not contagious, it's a genetic disorder.

Fertility: While people with thalassemia major can have children, they should consult a genetic counselor regarding the risks to offspring.

Variability: Thalassemia major severity varies based on genetic mutations, necessitating personalised treatment plans.

Transfusions as cure: Transfusions are vital for managing anemia but require accompanying chelation therapy to mitigate iron overload.

Quality of life: Despite requiring careful management, individuals with thalassemia major can lead fulfilling lives.

Ethnicity: While more prevalent in certain ethnic groups, thalassemia major can affect anyone.

Superstition and prevention: Ignorance, not superstition, contributes to thalassemia major transmission, highlighting the importance of universal testing for couples.

Understanding these facts and dispelling myths is crucial for supporting individuals with thalassemia major and promoting awareness and early diagnosis.

Facts:

Genetic basis: Thalassemia major follows an autosomal recessive pattern, requiring both parents to carry a mutated gene for their child to inherit the condition.

Symptoms: Typically appearing within six months of birth, symptoms include severe anemia, fatigue, jaundice, and poor growth, often accompanied by skeletal abnormalities.

Blood transfusions: Regular transfusions are crucial to manage anemia and maintain healthy hemoglobin levels, though they come with the risk of iron overload.

Iron chelation therapy: Excess iron from transfusions necessitates chelation therapy to prevent organ damage, particularly to the heart and liver.

Alternative treatments: Some combinations of oral medications, such as Hydroxyurea with Wheatgrass, aim to reduce dependence on transfusions.

New treatment molecules: Molecules like Luspatercept and Mitapivat offer hope for transfusion independence.

Bone marrow transplant: In certain cases, a bone marrow or stem cell transplant can provide a potential cure by replacing defective marrow with healthy donor cells.

Comprehensive care: Thalassemia major management requires a multidisciplinary approach encompassing regular medical check-ups, transfusions, chelation therapy, and complication monitoring.

Life expectancy: With proper treatment, many individuals with thalassemia major can live longer, healthier lives, even pursuing higher education and careers.