-thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies

Rivella, Stefano

doi:10.3324/haematol.2014.114827

Cited by 105 publications

(140 citation statements)

References 171 publications

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“…In recent years, thalassemia has returned to the forefront of science. The study of anemia in general [62] and thalassemia [63] and the bhemoglobinopathies in particular [64], have led to increased understanding of molecular mechanisms underlying these diseases. Thalassemia has thus become a paradigm for discoveries regarding the pathophysiology of anemia and potential novel therapies.…”

Section: Novel Therapies Already Here or On The Horizonmentioning

confidence: 99%

“…Thalassemia has thus become a paradigm for discoveries regarding the pathophysiology of anemia and potential novel therapies. Three excellent reviews comprehensively discuss potential (or actual) novel targets for therapies for anemia, including thalassemia [62][63][64]. This review will only mention seven of these newer therapeutic avenues which are aimed at alleviating the anemia and/or iron overload.…”

Section: Novel Therapies Already Here or On The Horizonmentioning

confidence: 99%

“…This is seen in murine models and in thalassemia patients, and it is thought to contribute to ineffective erythropoiesis, with massive erythroid hyperplasia and extramedullary hematopoiesis [74]. Therefore it is plausible to administer JAK2 inhibitors to reduce splenomegaly and ineffective erythropoiesis in nontransfusion dependent thalassemia [63,73]. While this may seem counterintuitive, as these drugs can cause anemia and other cytopenias, this approach is currently being tested in clinical trials for selected patients.…”

Section: Jak2 Inhibitorsmentioning

confidence: 99%

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Thalassemia 2016: Modern medicine battles an ancient disease

Rund

2015

American J Hematol

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Thalassemia was first clinically described nearly a century ago and treatment of this widespread genetic disease has greatly advanced during this period. DNA‐based 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‐based 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. 91:15–21, 2016. © 2015 Wiley Periodicals, Inc.

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Section: Novel Therapies Already Here or On The Horizonmentioning

confidence: 99%

Section: Novel Therapies Already Here or On The Horizonmentioning

confidence: 99%

Section: Jak2 Inhibitorsmentioning

confidence: 99%

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Thalassemia 2016: Modern medicine battles an ancient disease

Rund

2015

American J Hematol

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“…However, transfusion-independence is still associated with a variety of serious clinical morbidities. [1][2][3] In NTDT the master regulator of iron homeostasis, hepcidin (Hamp), is chronically repressed. [4][5][6][7] Therefore, patients absorb abnormally high levels of iron, requiring iron chelation to prevent the clinical sequelae associated with iron overload.…”

mentioning

confidence: 99%

Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia

et al. 2015

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“…In 2015, we covered various topics, including β-thalassemia, T-cell and natural killer cell therapies, the bone marrow niche, and B-cell receptor signaling inhibitors in CLL. [1][2][3][4] We will continue this review series in 2016, and we will also link it to a 'Question & Answer' session where you as a reader will have the opportunity to put questions to the authors. I hope the review articles published in Haematologica are of value to you and your colleagues and students, and that they help to address your need to stay upto-date on new developments in hematology.…”

Section: The 'Leaders In Hematology' Review Seriesmentioning

confidence: 99%

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Cools¹

2015

Haematologica

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-thalassemias: paradigmatic diseases for scientific discoveries and development of innovative therapies

Cited by 105 publications

References 171 publications

Thalassemia 2016: Modern medicine battles an ancient disease

Thalassemia 2016: Modern medicine battles an ancient disease

Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia

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