Teachable moment in classrooms:
- cellular basis of life chapter – concept of one gene, one protein
- cellular basis of life chapter – concept of gene mutation leading to protein malfunction
- cellular basis of life chapter – mRNA translation is needed for protein synthesis
- blood chapter – red blood cells are made in the red bone marrow
- blood chapter – the role of globin chains in hemoglobin function
The news item: Recently the following report appeared:
https://timesnewscity.com/bluebirds-2-8m-gene-therapy-becomes-most-expensive-drug-after-us-approval/
The article states that about 1,500 patients need blood transfusion every 2-5 weeks, and that Zynteglo is a gene therapy.
So, Why Do I Care??
The most severe type of beta-thalassemia causes serious anemia with the symptoms of continuous lethargy, fatigue, tiredness. To fight this, the patients require regular blood transfusions. Those patients expected to live until about the age of 50. in the US there are about 1500-3000 such patients. New treatment approaches give the hope of longer life to those patients.
Plain English, Please!!! First, let’s talk about what beta-thalassemia is. This disorder is caused by the missing beta-globin protein in hemoglobin. The protein is missing because the beta-globin gene has mutations that prevent the mRNA formation for beta-globin. The outcome is that hemoglobin is abnormal, because it is formed only from the alpha-globin proteins. Such abnormal hemoglobin makes cells of the red bone marrow to burst, reducing the production of oxygen transporter red blood cells. The decreased oxygen transport cause anemia, the starvation of cells for oxygen.
Second, let’s talk about how red blood cells are made. The damage of the beta-thalassemia is done in the red bone marrow, where red blood cells are formed. In the red bone marrow the red blood cells move