β-thalassemia is an autosomal recessive blood disease caused by mutations in β-globin genes that either reduce or altogether abolish β-globin chain synthesis. Normally, two β-globin chains would combine with two α-globin chains and a heme group to form hemoglobin. Because α-globin chain synthesis is unaffected in β-thalassemia patients, the unpaired α-globin chains accumulate and precipitate. The reduced formation of hemoglobin and accumulation of unpaired α-globin chains are the two fundamental molecular pathologies. In the most serious cases of the disease, the resulting complications develop before two years of age. Most often, these include severe anemia, pallor, jaundice, abdominal enlargement, and distinct craniofacial features. If left untreated, the disease is fatal before the age of three in the most serious cases. Each year, more than 40,000 births, mostly in Southeast Asia, Middle East, or Africa, are affected with β-thalassemia. With increased migration, however, β-thalassemia is becoming more common in Europe and North America. Currently, the most widespread treatment for the disease is transfusions and iron chelation therapy, and the only cure is hematopoietic stem cell transplantation. In recent years, however, multiple treatments and potential cures such as fetal hemoglobin inducers and gene therapy have shown promise. By analyzing the cost-efficiency, viability, and therapeutic benefits of current and future treatments, it can be seen that a combination of fetal hemoglobin inducers, transfusions, and iron chelation therapy will have the greatest impact for the vast majority of β-thalassemia patients.
| Identifer | oai:union.ndltd.org:bu.edu/oai:open.bu.edu:2144/45740 |
| Date | 10 March 2023 |
| Creators | Kitiashvili, Michael |
| Contributors | Atkinson, David, Young, Aaron William |
| Source Sets | Boston University |
| Language | en_US |
| Detected Language | English |
| Type | Thesis/Dissertation |
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