Thalassemia Disease

Thalassemia
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1 A brief description of how and when the disease was first identified (i.e., historical perspective). (20 points)
Thalassemia, also known as Mediterranean anemia, was initially discovered by Thomas Benton Cooley, the head of the pediatrics department at the Children’s Hospital in Michigan. The Detroit physician investigated the similarities in the characteristics and presentation of children with anemia of Greek and Italian descent. The manifestations include decreased erythrocyte level, organ enlargement, mortality at a young age, and stunted growth or bone abnormalities. The research results were reported in 1925, and the disease was initially known as erythroblastic anemia. Other physicians conducted further research until they found that it was secondary to abnormalities in hemoglobin structure in 1946 (American Society of Hematology, 2008; Cooley’s Anemia Foundation, 2021).
2 What specific is a biological molecule (i.e., protein, nucleic acid, lipid, carbohydrate, or vitamin) affected by this disease (be sure to provide the specific name of the molecule)? (20 points)
It affects hemoglobin, a protein component of erythrocytes, which distributes oxygen throughout the body. Specifically, the disease is secondary to the mutations in the beta-globin gene or hemoglobin B. It can be found on chromosome 11. Rarely, it can also be secondary to genetic deletions. The severity of the disease is based on the amount of beta globulin-containing red blood cells (RBCs). Some RBCs have decreased, while others have a total absence of hemoglobin B (Needs et al., 2021).
3 What specific is a biological process (i.e., metabolic pathway) affected? (20 points)
The specific biological process affected in thalassemia is erythropoiesis. The disease leads to the premature programmed cell death of the erythroblasts, the precursor of erythrocytes, due to the abnormalities in globin-synthesis production. These proteins are critical components of heme, which carries the oxygen essential for the proper functioning of organs. The defect in thalassemia is the diminished beta-globin synthesis, increasing a-globin synthesis. In this case, the disease is called beta-thalassemia—conversely, an excess of the latter results in alpha-thalassemia. The globin chains are unmatched, resulting in the early hemolysis of RBC precursors in the bone marrow. As a result, there is a higher rate of iron turnover and reprocessing of heme (Musharraf et al., 2017).
It affects the function of heme oxygenase-1 (HO-1), an enzyme that facilitates byproducts of destructive body processes, including the prooxidant free heme. Moreover, the enzyme induces the discharge of bilirubin and biliverdin. Both are metabolites with antioxidants. The problem with this protective enzyme is ...