{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T16:37:56Z","timestamp":1775839076605,"version":"3.50.1"},"reference-count":88,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,12,23]],"date-time":"2015-12-23T00:00:00Z","timestamp":1450828800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>Thalassemia was first clinically described nearly a century ago and treatment of this widespread genetic disease has greatly advanced during this period. DNA\u2010based diagnosis elucidated the molecular basis of the disease and clarified the variable clinical picture. It also paved the way for modern methods of carrier identification and prevention via DNA\u2010based prenatal diagnosis. Every aspect of supportive care, including safer blood supply, more regular transfusions, specific monitoring of iron overload, parenteral and oral chelation, and other therapies, has prolonged life and improved the quality of life of these patients. Significant advances have also been made in allogenic bone marrow transplantation, the only curative therapy. Recently, there has been a rejuvenated interest in studying thalassemia at the basic science level, leading to the discovery of previously unknown mechanisms leading to anemia and enabling the development of novel therapies. These will potentially improve the treatment of, and possibly cure the disease. Pathways involving activin receptors, heat shock proteins, JAK2 inhibitors and macrophage targeted therapy, among others, are being studied or are currently in clinical trials for treating thalassemia. Novel types of genetic therapies are in use or under investigation. In addition to the challenges of treating each individual patient, the longer survival of thalassemia patients has raised considerations regarding worldwide control of thalassemia, since prevention is not universally implemented. This review will trace a number of the original medical milestones of thalassemia diagnosis and treatment, as well as some of the most recent developments which may lead to innovative therapeutic modalities. Am. J. Hematol. 91:15\u201321, 2016. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajh.24231","type":"journal-article","created":{"date-parts":[[2015,11,5]],"date-time":"2015-11-05T03:04:52Z","timestamp":1446692692000},"page":"15-21","source":"Crossref","is-referenced-by-count":68,"title":["Thalassemia 2016: Modern medicine battles an ancient disease"],"prefix":"10.1002","volume":"91","author":[{"given":"Deborah","family":"Rund","sequence":"first","affiliation":[{"name":"Hematology Department Hebrew University\u2010Hadassah Medical Organization Ein Kerem Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,12,23]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"29","article-title":"A series of cases of splenomegaly in children with anemia and peculiar bone changes","volume":"37","author":"Cooley T","year":"1925","journal-title":"Trans Am Pediatr"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.153.3737.760"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0495-365"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106745"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.70.6.1886"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/324163a0"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10044"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt911"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/0268-960X(87)90029-4"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050436"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0268-960X(12)70003-6"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0268-960X(87)90032-4"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)11086-5"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.47"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1363552"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a011775"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)91524-X"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12086"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijgo.2004.10.002"},{"key":"e_1_2_7_21_1","first-page":"214","article-title":"Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers","volume":"54","author":"Thein SL","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199701)54:1<16::AID-AJH3>3.0.CO;2-7"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1182\/asheducation-2013.1.354"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2108"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0711566105"},{"key":"e_1_2_7_26_1","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1182\/blood.V10.7.707.707","article-title":"Studies in Mediterranean (Cooley's) anemia. 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