Unveiling the Spectrum of Thalassemia: Insights and Advances on World Thalassemia Day

“Beta-thalassemia is an inherited blood condition caused by mutations in the HBB gene. This disrupts production of beta-globin, a vital protein in red blood cells for carrying oxygen. The resulting deficiency leads to anemia, with symptoms ranging from mild (carriers) to severe (thalassemia major) including fatigue, paleness, and weakness. India has the highest number of affected children worldwide with an estimated 1,00,000 to 1,50,000 children affected with Thalassemia major and 42 million people harbouring the ß (beta) thalassemia trait. In the nation, between 10,000 and 15,000 newborns are affected by thalassemia major each year. Both major and intermedia patients carry mutations in both copies of their HBB gene, responsible for synthesizing the beta globin protein. Thalassemia minor or carriers have a mutation in one copy of the HBB gene and do not often require transfusions. From the debilitating thalassemia major in childhood to the variable severity of thalassemia intermedia, and the often asymptomatic carriers of thalassemia minor, its impact varies widely.

Advanced diagnostic technologies like Next-generation sequencing play a pivotal role in detecting mutations in patients. In cases of thalassemia major, blood transfusions and bone marrow transplants serve as crucial treatments. However, with technological advancements, couples now have the opportunity to undergo genetic screening tests before starting a family to ensure their child isn’t a carrier or affected by thalassemia. If a mutation is found in either partner, prenatal testing can be conducted to detect thalassemia gene mutations in the fetus. Moreover, thalassemia mutation testing aids in pinpointing pathogenic variants in HBA1, HBA2, or HBB genes for individuals affected by thalassemia. Early diagnosis through molecular genetic testing can also be pursued for subsequent at-risk children, facilitating timely intervention and proper treatment.”

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