Sickle Cell Anemia: Stem Cell Transfusion Therapy

Summary

For my project I looked into sickle cell anemia and specifically the HBB gene. Sickle cell anemia is a hereditary autosomal recessive blood disorder that affects the structure and function of red blood cells. Sickle cell anemia is caused by a point (single nucleotide) mutation in the HBB gene, a gene that tells the body how to make hemoglobin. The mutated hemoglobin protein is abnormal causing it to become hemoglobin S. This disrupts the normal biconcave disk structure of a red blood cell and causes it to be sickle shaped.

To treat this condition I wanted to research stem cell transfusions and LYFGENIA. Since HSCT has many risks such as graft-versus-host disease, infections, and transplant-related mortality, I wanted to focus on LYFGENIA. LYFGENIA is an ex vivo autologous gene therapy approved by the FDA in December 2023. This treatment is for patients 12 years of age and older with sickle cell anemia and a history of blood vessel blockages.

Comparison between healthy hemoglobin and hemoglobin S

(Figure representation created by the author: Krishna Budur)

Process of LYFGENIA gene therapy

(Figure representation created by the author: Krishna Budur)

Impact Statement

Krishna Budur

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This program taught me vital research skills and allowed me to find a specific interest in genetic research. The mentors guided us through different skill sets that are used in the medical field and how they can help us in the future. I especially enjoyed the second week of the program because we learned more about the technological side to the medical field and this is extremely important because of how fast tech is developing and getting incorporated into this field. The afternoon sessions allowed us freedom into what we wanted to research and I chose sickle cell anemia. I learned not only about the specific traits of the gene that causes this, but also about treatments and how they work. I am extremely grateful for my time in this program as it was educational and also fulfilled my passion for biology.

Student Reflection

By: Krishna Budur. The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of Elio Academy.