World Thalassemia Day: Creating awareness: Empowering communities, saving lives

By highlighting the impact of thalassemia and advocating for screening programs and treatment options, we strive to empower individuals and communities affected by this genetic disorder, promoting early detection and intervention for better outcomes

What is thalassemia?
Thalassemia is a genetic disorder characterized by abnormal hemoglobin production, leading to a shortage of red blood cells and, consequently, anemia.

While carriers of the thalassemia gene may lead normal lives, those with thalassemia major, have to undergo repeated transfusion, has increased susceptibility to various infections, hepatomegaly splenomegaly, bone issues and other health complications, including organ failure. Thalassemia can be of different types, but majorly can be alpha or beta.

How Common is Thalassemia?
Globally it is presumed that about 5-7 % of the individuals would be thalassemia carriers. In India, the prevalence of beta thalassemia carriers in the general population has been revealed to be 3.74%, with a confidence interval of 2.52% to 4.97%. Certain communities, including Sindhis, Punjabis, Gujaratis, Bengalis, Mahars, Kolis, Saraswats, Lohanas, and Gaurs, exhibit a higher prevalence, as observed with frequencies of 6-7%.

Inheritance:
Thalasemia is a autosomal recessive disorder, which means we all have two copies of the gene, carriers have one normal copy and one altered copy but are asymptomatic. However, if a child is born out of a marriage between carriers, then, there is a 25 % chance of a symptomatic child.

Comprehensive Screening:
Thalassemia screening aims to detect carriers of the genetic mutations responsible for this blood disorder. A Complete blood count, indicated the possibility of carrier, which can be picked up by HPLC electrophoresis. HPLC typically involves blood tests to identify abnormal hemoglobin patterns. For those at risk, genetic counseling may follow. Not all kind of thalassemia pose a risk for the next generation

Diagnosis / Prevention:
Diagnostic tests, such as hemoglobin electrophoresis and DNA analysis, confirm thalassemia types and severity. Prenatal diagnosis by CVS/ Amniocentesis can help understand the status in womb. Preimplantation genetic testing {PGT (M)}, where embryos can be screened and the healthy embryo can be implanted.
Early detection enables proactive management, including treatment plans and family planning decisions. Empowering individuals through education and accessible screening programs is crucial for prevention and improved outcomes.

The genetic match making:
Carrier screening for genetic disorders is vital in India, driven by several compelling reasons that underscore the necessity of proactive healthcare interventions and strategic family planning approaches. India's population, exceeding 1.3 billion, coupled with a high prevalence of genetic disorders, mandates the implementation of carrier screening programs for the betterment of future generations.

India's genetic landscape is diverse, comprising numerous ethnic groups with unique genetic compositions. India is a land of endogamy (marriage in closed communities) and consanguinity are also prevalent. This leads to accumulation of negative genetic traits that can cause genetic disorders in next generation. Certain genetic disorders, such as thalassemia and sickle cell disease, exhibit higher prevalence rates in specific communities. Therefore, targeted carrier screening tailored to regional genetic variations can effectively identify at-risk individuals and facilitate timely interventions to mitigate the transmission of genetic disorders.

Despite efforts of the government, the National Health mission (NHM- Blood division) drafted in 2018, a lack of awareness and limited access to genetic testing exacerbate the burden of genetic disorders in India. Many individuals remain unaware of their carrier status, leading to unexpected diagnoses in their offspring. Comprehensive carrier screening programs, accompanied by educational initiatives, can empower individuals to make informed decisions about family planning and access appropriate healthcare services.

Carrier screening also helps alleviate the economic and emotional burdens associated with managing genetic disorders. Families often face significant financial strain due to the lifelong medical expenses incurred in caring for affected individuals. By identifying carriers before conception, families can make informed choices to reduce the risk of passing on genetic disorders to their children, thereby alleviating the socioeconomic impact on families and healthcare systems.

Moreover, carrier screening promotes reproductive autonomy and informed decision-making. Armed with knowledge about their carrier status, individuals can explore various options, such as prenatal diagnosis, pre-implantation genetic diagnosis (PGT), adoption, or assisted reproductive technologies, to build their families while minimizing the risk of transmitting genetic disorders.

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The implementation of nationwide carrier screening programs aligns with the global trend towards personalized and precision medicine. Leveraging advancements in genetic testing technologies, India can offer tailored screening panels designed to detect a wide range of genetic disorders, catering to the diverse needs of its population.

Prioritizing carrier screening reflects India's commitment to preventive healthcare and public health initiatives. By investing in preventive measures, such as genetic screening, the country can reduce the overall disease burden, improve health outcomes, and enhance the quality of life for individuals and families affected by genetic disorders.

In conclusion, carrier screening for genetic disorders is indispensable in India due to its vast population, genetic diversity, and the socioeconomic impact of inherited diseases. Through comprehensive screening programs, awareness campaigns, and informed decision-making support, India can address the challenges posed by genetic disorders and pave the way for a healthier and more resilient future.

(By Dr. Dipanjana Datta, BGCI Level II certified Genetic Counselor at Renew Healthcare)