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Sickle Cell Anemia and Thalassemia - Two Genetic Abnormalities Sharing a Common

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Genes2Me Pvt Ltd
Sickle Cell Anemia and Thalassemia - Two Genetic Abnormalities Sharing a Common

Introduction to Sickle Cell Anemia and Thalassemia:

Sickle cell anemia and thalassemia comes under the category of genetic disorders known as Hemoglobinopathies. This category has been assigned to disorders associated with hemoglobin. Hemoglobin is proteinaceous molecule that binds to oxygen and help in movement of oxygen to different parts of the body. Any defect in the structure of hemoglobin can lead to are blood disorders and genetic abnormalities. Thalassemia and sickle cell anemia are examples of the genetic disorders caused by modification in the structure of hemoglobin. These disorders have can serious consequences on the health; especially circulatory system of an individual whose major component is blood. Early detection can help in designing optimum treatment for the specific patient having these two abnormalities.

Role of Genetic testing:

Modern technologies and innovations in the field of diagnostics have made the screening of genetic disorders and chromosomal abnormalities easy through various methods of genetic testing. Genetic testing for sickle cell anemia and thalassemia have proved to be a boon for the patients having aforesaid mentioned disorders. One of the thought leaders in the field of genetic testing, Genes2me, a diagnostic company has a special exclusive panel known as ThalScreen. This panel is specific for screening mutations pertaining to sickle cell anemia and thalassemia. Mutations specific to hemoglobin proteinaceous gene (HBB genes) are screened and identified by analyzing the genome of an individual. Next generation DNA sequencing-based platform is used to screen the genome of an individual for disease causing mutations. Pre and post genetic counseling sessions are also provided for better understanding of analytical reports and genetic testing results. For more details and queries regarding the testing procedures, you can visit the website www.genes2me.com.

Difference between Sickle Cell anemia and Beta thalassemia:

The most striking difference between these two disorders lies in their name itself. In the case of Sickle cell, the shape of hemoglobin molecule turns into an abnormal sickle shape which hinders the transfer of hemoglobin to different parts of the body. Any modification in the beta chain of hemoglobin results in the beta thalassemia. This results in reduced production of beta chain of hemoglobin. In some cases, both these disorders are seen in the same individual. This disease is commonly known as Sickle Cell Beta Thalassemia disease. This specific disease results in the production of malfunctioned hemoglobin as well as decline in the production of beta globin chains is also observed.

Sickle cell anemia and beta thalassemia are genetic disorders that can be effectively managed if detected at an early stage. Both the diseases are characterized by some basic symptoms such as anemia and presence of enlarged spleen or liver. Genetic testing has revolutionized the way of managing and treating gene related disorders by the use of advanced and modernized technologies. Additionally, genetic counseling sessions are also proving to a boon for the patients and families having these specific genetic disorders. Genes2Me BRCA Check is also an effective screening procedure for detection of breast cancer.

Follow Genes2Me for updates regarding sickle cell anemia and thalassemia.

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