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Thalassemia is an autosomal recessive disorder, meaning both parents must be carriers for their child to inherit the condition. If both parents are carriers, there's a 25% chance with each pregnancy of having a child with thalassemia major, the more severe form.
The National Health Mission Guidelines for Prevention and Control of Hemoglobinopathy in India reveal alarming statistics, indicating that India has the highest number of children with Thalassemia major globally.
Genetic counselling and testing can provide valuable information for individuals and couples, especially before planning a family, to understand the risk and make informed decisions. Sterling Accuris Diagnostics strongly advocates for preconception counselling and thalassemia testing to empower couples in preventing the transmission of this genetic disorder to future generations. The diagnostic centre offers a special package duly named as “HUM TUM Health Package”
Thalassemia is an autosomal recessive blood disorder impacting hemoglobin production, leading to anemia, fatigue, and other health complications. With two main types – alpha and beta thalassemia – each having various subtypes and severity levels, early testing and diagnosis become paramount.
Preconception counseling, a process guided by genetic counsellors, informs couples about available methods and diagnostic procedures for early and preventive thalassemia diagnosis. Sterling Accuris Diagnostics emphasizes the significance of testing before marriage or family planning, given that 10,000-15,000 babies with thalassemia major are born annually in India.
Thalassemia can be detected through various methods such as CBC, HB electrophoresis, HBB genotyping with Sanger/PCR and FISH, and karyotyping of both parents. Identifying carriers before conception allows couples to make informed decisions about family planning, non-invasive diagnosis techniques, or adoption.
Prevention of Thalassemia: Testing identifies carriers, preventing the transmission of thalassemia to future generations.
Early Detection: Identifying carriers at an early stage enables timely intervention and treatment.
Informed Family Planning: Couples, if both of the partners are identified as carriers, can make informed decisions about family planning, exploring non-invasive diagnostic techniques or other measures.
Sterling Accuris Diagnostics is committed to raising awareness about thalassemia and the benefits of testing before marriage or family planning. The organization encourages all couples to undergo thalassemia testing for its prevention as well as for reducing psychosocial impact on themselves and improving overall family health.
Education and counselling plays a pivotal role in bridging the thalassemia care gap. By advocating for preconception counselling and testing (HUM TUM Package), we can empower couples to make informed decisions about family planning, contributing to the prevention of thalassemia and ensuring the health and well-being of future generations.
Thalassemia is one of the important significant public health concerns in India because of its chronic, incurable nature, heavy burden of suffering and a large financial cost. Sterling Accuris Diagnostics remains dedicated to this cause, promoting awareness and encouraging proactive measures in the fight against thalassemia.