Genetic mutations have the potential to change the course of someone’s life entirely. You may have heard about sickle cell disease, albinism, cystic fibrosis, or beta-thalassemia. One thing these diseases all have in common is that the underlying cause remains the same: genetic mutations.
Specifically in the case of beta-thalassemia, the disease is caused by a substitution error in the DNA, substituting a healthy “G” nucleotide with an “A” nucleotide. This is specifically harmful because when the cell undergoes transcription, the change in the DNA sequence codes for a different amino acid. Since amino acids build to create proteins, patients with beta-thalassemia ultimately develop a warped protein in comparison to a healthy patient.
Wild-type (Normal):
3’ GTG ATT GAC GGA GCG GCG …….. ACC 5’
5’ CAC TAA CTG CCT CGC CGC …….. TGG 3’
Beta-Thalassemia Patient(Mutant):
3’ GTG ATT GAC AGA GCG GCG …….. ACC 5’
5’ CAC TAA CTG TCT CGC CGC …….. TGG 3’
Since this specific gene (section of DNA) codes for the red blood cell, patients with beta-thalassemia often have warped red blood cells. The warped shape comes from a lack of hemoglobin production, due to their mutation. The lack of hemoglobin production ultimately creates symptoms like fatigue, shortness of breath, pale skin, and a fast heartbeat. Patients that have beta-thalassemia major, a more severe version of the disease, may face stronger symptoms that can be potentially fatal. While several treatment options exist, no treatment currently on the market is truly able to solve the problem at its root cause – the genetic mutation. Options like bone-marrow transplants and blood transfusions only work to suppress the symptoms that the patient may be experiencing.
References
“Beta Thalassemia (for Parents) | Nemours Kidshealth.” Edited by Corinna L. Schultz, KidsHealth, The Nemours Foundation, Mar. 2022,
kidshealth.org/en/parents/beta-thalassemia.html#:~:text=What%20Is%20Beta%20Thalassemia %3F,carries%20oxygen%20throughout%20the%20body.
Written by Ivory Chen from MEDILOQUY