Thalassemia historical perspective: Difference between revisions
Jump to navigation
Jump to search
Shyam Patel (talk | contribs) |
Shyam Patel (talk | contribs) |
||
| Line 16: | Line 16: | ||
*In '''1952''', Silvestroni and colleagues note that beta-thalassemia trait was highly prevalent in the Po River's delta region.<ref name="pmid28293406">{{cite journal| author=De Sanctis V, Kattamis C, Canatan D, Soliman AT, Elsedfy H, Karimi M et al.| title=β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint. | journal=Mediterr J Hematol Infect Dis | year= 2017 | volume= 9 | issue= 1 | pages= e2017018 | pmid=28293406 | doi=10.4084/MJHID.2017.018 | pmc=5333734 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28293406 }} </ref> | *In '''1952''', Silvestroni and colleagues note that beta-thalassemia trait was highly prevalent in the Po River's delta region.<ref name="pmid28293406">{{cite journal| author=De Sanctis V, Kattamis C, Canatan D, Soliman AT, Elsedfy H, Karimi M et al.| title=β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint. | journal=Mediterr J Hematol Infect Dis | year= 2017 | volume= 9 | issue= 1 | pages= e2017018 | pmid=28293406 | doi=10.4084/MJHID.2017.018 | pmc=5333734 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28293406 }} </ref> | ||
*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. | *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. | ||
*In '''1978''', the concept of the hematopoietic niche in the bone marrow was introduced by Dr. Schofield.<ref name="pmid25093887">{{cite journal| author=Lane SW, Williams DA, Watt FM| title=Modulating the stem cell niche for tissue regeneration. | journal=Nat Biotechnol | year= 2014 | volume= 32 | issue= 8 | pages= 795-803 | pmid=25093887 | doi=10.1038/nbt.2978 | pmc=4422171 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25093887 }} </ref> | |||
*In the '''1980s''', the concept of allogeneic bone marrow transplant was introduced with the goal of correcting the nonfunctional globin chain. | *In the '''1980s''', the concept of allogeneic bone marrow transplant was introduced with the goal of correcting the nonfunctional globin chain. | ||
*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.<ref name="pmid25737641">{{cite journal| author=Finotti A, Breda L, Lederer CW, Bianchi N, Zuccato C, Kleanthous M et al.| title=Recent trends in the gene therapy of β-thalassemia. | journal=J Blood Med | year= 2015 | volume= 6 | issue= | pages= 69-85 | pmid=25737641 | doi=10.2147/JBM.S46256 | pmc=4342371 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25737641 }} </ref> 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.<ref name="pmid25737641">{{cite journal| author=Finotti A, Breda L, Lederer CW, Bianchi N, Zuccato C, Kleanthous M et al.| title=Recent trends in the gene therapy of β-thalassemia. | journal=J Blood Med | year= 2015 | volume= 6 | issue= | pages= 69-85 | pmid=25737641 | doi=10.2147/JBM.S46256 | pmc=4342371 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25737641 }} </ref> | *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.<ref name="pmid25737641">{{cite journal| author=Finotti A, Breda L, Lederer CW, Bianchi N, Zuccato C, Kleanthous M et al.| title=Recent trends in the gene therapy of β-thalassemia. | journal=J Blood Med | year= 2015 | volume= 6 | issue= | pages= 69-85 | pmid=25737641 | doi=10.2147/JBM.S46256 | pmc=4342371 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25737641 }} </ref> 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.<ref name="pmid25737641">{{cite journal| author=Finotti A, Breda L, Lederer CW, Bianchi N, Zuccato C, Kleanthous M et al.| title=Recent trends in the gene therapy of β-thalassemia. | journal=J Blood Med | year= 2015 | volume= 6 | issue= | pages= 69-85 | pmid=25737641 | doi=10.2147/JBM.S46256 | pmc=4342371 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25737641 }} </ref> | ||
Revision as of 23:08, 21 November 2017
|
Thalassemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Thalassemia historical perspective On the Web |
|
American Roentgen Ray Society Images of Thalassemia historical perspective |
|
Risk calculators and risk factors for Thalassemia historical perspective |
Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.
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 5000 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.
- In 1978, the concept of the hematopoietic niche in the bone marrow was introduced by Dr. Schofield.[2]
- In the 1980s, the concept of allogeneic bone marrow transplant was introduced with the goal of correcting the nonfunctional globin chain.
- 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.[3] 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.[3]
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.
- ↑ 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.
- ↑ 3.0 3.1 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.