Thalassemia historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]
Overview
Historical Perspective
Our knowledge about the origins of thalassemia date back to more than 6000 years ago.
- In 4000 B.C., persons of eastern Mediterranean descent migrated to Sicily, carrying thalassemia gene variants with them.[1]
- In the 800s-900s, there was mass migration of Arabs.
- In the 1400s-1500s, there was further influx of beta-thalassemia mutations with the expansion of the Ottoman Empire.[1] The Ottoman Expire expanded Eastern Europe, Central Asia, and Northern Africa, leading to additional mutations to develop in the population.
- In 1948, J.B.S. Haldane hypothesized that a heterozygote advantage existed for patients with beta-thalassemia in the context of malaria infection. This theory was similar to that of the heterozygote advantage conferred by sickle cell trait for malaria resistance. It was thought that thalassemia mutations would be selected for and would propagate in areas of high prevalence of malaria. Microcytic erythrocytes are less susceptible to malaria infection.
- In 1952, Silvestroni and colleagues note that beta-thalassemia trait was highly prevalent in the Po River's delta region.[1]
- In the 1970s, the predilection of beta-thalassemia to affect Mediterranean populations was recognized, and pilot prevention programs were established to raise awareness and provide education about thalassemia. During this time, red blood cell transfusions were a mainstay for therapy. Transfusions were complicated by the risk for infections with hepatitis B, hepatitis C, and HIV. Also in the 1970s, scientists began to understand the mutational landscape of thalassemias.[2]
- In 1978, the concept of the hematopoietic niche in the bone marrow was introduced by Dr. Schofield.[3]
- In the 1980s, the concept of allogeneic bone marrow transplant was introduced with the goal of correcting the nonfunctional globin chain.
- In 1989, Higgs and colleagues reported on the molecular basis of thalassemias.[2]
- In the 2000s, gene therapy was conceptualized for thalassemias. Efforts were made to introduce exogenous wild-type globin genes into patients to restore normal globin function.[4] The goal was to achieve highly efficient transduction of hematopoietic stem and progenitor cells (HSPC) such that a normal function globin product could be produced.[4]
References
- ↑ 1.0 1.1 1.2 De Sanctis V, Kattamis C, Canatan D, Soliman AT, Elsedfy H, Karimi M; et al. (2017). "β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint". Mediterr J Hematol Infect Dis. 9 (1): e2017018. doi:10.4084/MJHID.2017.018. PMC 5333734. PMID 28293406.
- ↑ 2.0 2.1 Higgs DR (2013). "The molecular basis of α-thalassemia". Cold Spring Harb Perspect Med. 3 (1): a011718. doi:10.1101/cshperspect.a011718. PMC 3530043. PMID 23284078.
- ↑ Lane SW, Williams DA, Watt FM (2014). "Modulating the stem cell niche for tissue regeneration". Nat Biotechnol. 32 (8): 795–803. doi:10.1038/nbt.2978. PMC 4422171. PMID 25093887.
- ↑ 4.0 4.1 Finotti A, Breda L, Lederer CW, Bianchi N, Zuccato C, Kleanthous M; et al. (2015). "Recent trends in the gene therapy of β-thalassemia". J Blood Med. 6: 69–85. doi:10.2147/JBM.S46256. PMC 4342371. PMID 25737641.