Management of the aging beta-thalassemia transfusion-dependent population – The Italian experience

Pinto, Valeria; Poggi, Maurizio; Russo, Rodolfo; Giusti, Andrea; Forni, Gian Luca

doi:10.1016/j.blre.2019.100594

Cited by 42 publications

(64 citation statements)

References 94 publications

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“…In our study, osteoporosis was amongst the most prevalent classes of co-morbidity, consistent with the literature, 8,17,18 with rates ranging from 16Á3% to 69Á7% as reported in four major studies of adult Italian TDT patients published between 2009 and 2019 and reviewed by Pinto et al 19 The rate of diabetes (34%) was similar to the approximately 40% rate that was previously reported in a 2014 UK study of TDT patients, 20 but much higher than rates reported in adult Italian cohorts, 19 where reported prevalence ranged from 4Á7% to 18Á0%.…”

Section: Discussionsupporting

confidence: 91%

Co‐morbidities and mortality associated with transfusion‐dependent beta‐thalassaemia in patients in England: a 10‐year retrospective cohort analysis

Jobanputra

Paramore

Laird³

et al. 2020

Br J Haematol

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A retrospective cohort analysis to explore 10-year mortality and prevalence of transfusion-dependent b-thalassaemia (TDT)-associated co-morbidities in patients with TDT was undertaken using Hospital Episode Statistics (HES) data from the National Health Service (NHS) in England. A 10-year forward-looking cohort analysis for the period 2009-2018 was completed using HES admitted patient care (APC), outpatient data, and linked HES/ Office of National Statistics mortality data for patients with b-thalassaemia (ICD-10 diagnosis code D56.1). TDT-associated co-morbidity rates were high in the 612 patients with TDT, with 76% having at least one co-morbidity, 54% suffering from two of more, and 37% three or more. The three most common TDT-associated co-morbidities, occurring in more than one third of patients were: endocrine disorders (excluding diabetes) 40%, osteoporosis 40%, and diabetes 34%. Cardiac disease was observed in 18% of patients overall, with atrial fibrillation and heart failure being the most common with a prevalence of 11% and 9%, respectively. The crude 10-year mortality rate in the TDT cohort was 6Á2% (38/612), significantly greater than the 1Á2% age/sex-adjusted mortality rate of the general population (P < 0Á001). These data support the notion that the unmet need in TDT remains significant, with high rates of co-morbidity and mortality.

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Section: Discussionsupporting

confidence: 91%

Co‐morbidities and mortality associated with transfusion‐dependent beta‐thalassaemia in patients in England: a 10‐year retrospective cohort analysis

Jobanputra

Paramore

Laird³

et al. 2020

Br J Haematol

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“…One example is the increase in the immunogenic reactions as more and more patients who were previously labelled as non‐transfusion dependent are, over time, being more regularly transfused. The result is that mostly degenerative conditions are already affecting the ageing thalassaemia patients and are becoming a novel challenge for the treating physicians 9,10 …”

Section: The Changing Epidemiology Of Thalassaemiamentioning

confidence: 99%

The changing epidemiology of the ageing thalassaemia populations: A position statement of the Thalassaemia International Federation

Farmakis

Giakoumis

Angastiniotis³

et al. 2020

European J of Haematology

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Therapeutic advances in β‐thalassaemia have gradually lead to a significant improvement in prognosis over the past few decades. As a result, patients living in areas where disease‐specific programmes offering access to modern therapy are in place experience a new era of prolonged survival that tends to reach that of the normal population. This ageing thalassaemia population, however, faces a new spectrum of comorbidities resulting from increasing age that may jeopardise the advances in prognosis provided by current therapy and thus poses new challenges in diagnosis, monitoring and treatment. In this position paper of the Thalassaemia International Federation, we review the changing epidemiology and clinical spectrum of patients with β‐thalassaemia and propose actions to be undertaken in order to address the emerging spectrum of comorbidities resulting from ageing.

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“…The most severe form of -thalassemia, transfusion-dependent thalassemia (TDT), requires lifelong red blood cell transfusions, resulting in iron overload and complications, such as heart failure, liver fibrosis and endocrine disease [8]. The leading cause of early death in these patients is cardiac disease [9,10], but increases in lifespan will probably reveal the effects of risk factors on other causes of premature morbidity and mortality, such as infection [11], liver disease [12], hepatocarcinoma [13] and various other complications [14].…”

Section: Hemoglobin Disordersmentioning

confidence: 99%

Innovative Therapies for Hemoglobin Disorders

Sii-Felice¹,

Nègre²,

Brendel³

et al. 2020

BioDrugs

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-globin gene transfer has been used as a paradigm for hematopoietic stem cell (HSC) gene therapy, but is subject to major difficulties, such as the lack of selection of genetically corrected HSCs, the need for high-level expression of the therapeutic gene, and cell-specific transgene expression. It took more than 40 years for scientists and physicians to advance from the cloning of globin gene and discovering globin gene mutations to improving our understanding of the pathophysiological mechanisms involved, the detection of genetic modifiers, the development of animal models and gene transfer vectors, comprehensive animal testing, and demonstrations of phenotypic improvement in clinical trials, culminating in the authorization of the first gene therapy product for -thalassemia in 2019. Research has focused mostly on the development of lentiviral gene therapy vectors expressing variants of the -globin gene, or more recently targeting a -globin repressor, some of which have entered clinical testing and should soon diversify the available treatments and promote price competition. These results are encouraging, but we have yet to reach the end of the story. New molecular and cellular tools, such as gene editing or the development of induced pluripotent stem cells, are being developed, heralding the emergence of alternative products, the efficacy and safety of which are being studied. Hemoglobin disorders constitute an important model for testing the pros and cons of these advanced technologies, some of which are already in the clinical phase. In this review, we focus on the development of the advanced products, and recent technological innovations which could lead to clinical trials in the near future, and provide hope for a definitive cure of these severe conditions.

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Management of the aging beta-thalassemia transfusion-dependent population – The Italian experience

Cited by 42 publications

References 94 publications

Co‐morbidities and mortality associated with transfusion‐dependent beta‐thalassaemia in patients in England: a 10‐year retrospective cohort analysis

Co‐morbidities and mortality associated with transfusion‐dependent beta‐thalassaemia in patients in England: a 10‐year retrospective cohort analysis

The changing epidemiology of the ageing thalassaemia populations: A position statement of the Thalassaemia International Federation

Innovative Therapies for Hemoglobin Disorders

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