scholarly journals New challenges in diagnosis of haemoglobinopathies: Migration of populations

2018 ◽  
Vol 8 (1) ◽  
Author(s):  
John Old ◽  
Adele Timbs ◽  
Janice McCarthy ◽  
Alice Gallienne ◽  
Melanie Proven ◽  
...  

The current influx of economic migrants and asylum seekers from countries with a high prevalence of haemoglobinopathies creates new challenges for health care systems and diagnostic laboratories. The migration of carriers introduces new and novel haemoglobinopathy mutations to the diagnostic repertoire of a laboratory, often creating new pressures to improve and update the carrier screening technology and diagnostic scope. For antenatal screening programmes, the marriage of partners from different ethnic groups can lead to the risk of compound heterozygote children being born novel mutation combinations, creating problems in the provision of accurate advice regarding the expected phenotype of the thalassaemia or haemoglobinopathy disorder. In the UK, the impact of immigration required the National Haemoglobinopathy Reference laboratory to change the strategy and techniques used for the molecular diagnosis of thalassaemia and the haemoglobinopathies. In 2005, due to the increasingly large range of β-thalassaemia mutations that needed to be diagnosed, the laboratory switched from a three-step screening procedure using ARMS-PCR to a simpler but more expensive one-step strategy of DNA sequencing of the beta and alpha globin genes for all referrals. After ten years of employing this strategy, a further 57 novel thalassaemia and haemoglobionpopthy alleles were discovered (11 new β-chain variants, 15 α-chain variants, 19 β-thalassaemia mutations and 12 α+-thalassaemia mutations), increasing further the extremely heterogeneous spectrum of globin gene mutations in the UK population.

2021 ◽  
pp. 152692482110028
Author(s):  
Janice Jene Hudgins ◽  
Allison Jo Boyer ◽  
Kristen Danielle Orr ◽  
Clint Allen Hostetler ◽  
Jeffrey Paul Orlowski ◽  
...  

The COVID-19 pandemic has been well-documented to have a variable impact on individual communities and health care systems. We describe the experience of a single organ procurement organization (OPO), located in an area without a large cluster of cases during the initial phase of the COVID-19 pandemic. A review of community health data describing the impact of COVID-19 nationally and in Oklahoma was conducted. Additionally, a retrospective review of available OPO data from March 2019-May 2020 was performed. While the amount of donor referrals received and organs recovered by the OPO remained stable in the initial months of the pandemic, the observed organs transplanted vs. expected organs transplanted (O:E) decreased to the lowest number in the 15-month period and organs transplanted decreased as well. Fewer organs from Oklahoma donors were accepted for transplant despite staff spending more time allocating organs.


2021 ◽  
Vol 10 (13) ◽  
pp. 2792
Author(s):  
Patrícia Moniz ◽  
Sérgio Brito ◽  
Pedro Póvoa

The SARS-CoV-2 pandemic has placed great strain on the most developed of health care systems, especially in the context of critical care. Although co-infections with cytomegalovirus (CMV) are frequent in the critically ill due to underlying immune suppression of multiple causes, the impact on COVID-19 patients remains unclear. Furthermore, severe COVID-19 has recently been associated with significant immune suppression, and this may in turn impact CMV reactivation, possibly contributing to clinical course. Nevertheless, multiple confounding factors in these patients will certainly challenge upcoming research. The authors present a case series of five patients admitted to the intensive care unit (ICU) in the context of respiratory failure due to severe COVID-19. All patients evolved with CMV reactivation during ICU stay.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Xi Luo ◽  
Xiang-mei Zhang ◽  
Liu-song Wu ◽  
Jindong Chen ◽  
Yan Chen

Abstract Background α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-globin triplication and the genotype–phenotype correlation in this subpopulation Methods A cohort of 7644 subjects was selected from nine ethnicities covering four regions in Guizhou province of China. Peripheral blood was collected from each participant for routine blood testing and hemoglobin electrophoresis. PCR-DNA sequencing and Gap-PCR were used to identify the thalassemia gene mutations. Chi-square tests and one-way analysis of variance (ANOVA) were used to statistically analyze the data. Results We found that the frequency of α-globin triplication in Guizhou province was 0.772% (59/7644). Genotypically, the αααanti4.2/αα accounted for 0.523% (40/7644), the αααanti3.7/αα for 0.235% (18/7644), and the αααanti3.7/–SEA for 0.013% (1/7644). The αααanti4.2/αα is more prevalent than the αααanti3.7/αα in Guizhou. In addition, the frequency of the HKαα/αα (that by GAP-PCR is like αααanti4.2/-α3.7) was 0.235% (18/7644). Ethnically, the Tujia group presented the highest prevalence (2.47%) of α-globin triplication. Geographically, the highest frequency of the α-globin triplication was identified in Qiannan region (2.23%). Of the triplicated α-globin cases, 5 coinherited with heterozygote β-thalassemia and presented various clinical manifestations of anemia. Conclusions These data will be used to update the Chinese triplicated α-globin thalassemia database and provide insights into the pathogenesis of thalassemia. These findings will be helpful for the diagnosis of thalassemia and future genetic counseling in those regions.


2020 ◽  
Vol 13 (11) ◽  
pp. 400
Author(s):  
Arnold G. Vulto ◽  
Jackie Vanderpuye-Orgle ◽  
Martin van der Graaff ◽  
Steven R. A. Simoens ◽  
Lorenzo Dagna ◽  
...  

Introduction: Biosimilars have the potential to enhance the sustainability of evolving health care systems. A sustainable biosimilars market requires all stakeholders to balance competition and supply chain security. However, there is significant variation in the policies for pricing, procurement, and use of biosimilars in the European Union. A modified Delphi process was conducted to achieve expert consensus on biosimilar market sustainability in Europe. Methods: The priorities of 11 stakeholders were explored in three stages: a brainstorming stage supported by a systematic literature review (SLR) and key materials identified by the participants; development and review of statements derived during brainstorming; and a facilitated roundtable discussion. Results: Participants argued that a sustainable biosimilar market must deliver tangible and transparent benefits to the health care system, while meeting the needs of all stakeholders. Key drivers of biosimilar market sustainability included: (i) competition is more effective than regulation; (ii) there should be incentives to ensure industry investment in biosimilar development and innovation; (iii) procurement processes must avoid monopolies and minimize market disruption; and (iv) principles for procurement should be defined by all stakeholders. However, findings from the SLR were limited, with significant gaps on the impact of different tender models on supply risks, savings, and sustainability. Conclusions: A sustainable biosimilar market means that all stakeholders benefit from appropriate and reliable access to biological therapies. Failure to care for biosimilar market sustainability may impoverish biosimilar development and offerings, eventually leading to increased cost for health care systems and patients, with fewer resources for innovation.


1999 ◽  
Vol 55 (3) ◽  
pp. 9-14
Author(s):  
C. J. Eales

Health care systems for elderly people should aim to delay the onset of illness, reducing the final period of infirmity and illness to the shortest possible time. The most effective way to achieve this is by health education and preventative medicine to maintain mobility and function. Changes in life style even in late life may result in improved health, effectively decreasing the incidence of chronic diseases associated with advancing age. This paper presents the problems experienced by elderly persons with chronic diseases and disabilities with indications for meaningful therapeutic interventions.


2006 ◽  
Vol 5 (3) ◽  
pp. 375-385 ◽  
Author(s):  
Bob Matthews ◽  
Yoonsoon Jung

This paper discusses and compares the origin and development of the health care systems of South Korea and the UK from the end of WW2 and endeavours to compare outcomes. The paper emphasises the importance of war as a stimulus to the development of national health services in both countries and argues that there is convergence between the UK's nationalised NHS and South Korea's US-modelled capitalist system. Overall, we conclude that there is a possibility not only that the financing and nature of the Korean and UK health care delivery systems may show convergence, but it is not impossible that they will ‘change places’ with the UK system dominated by private provision and South Korea's by public provision.


2017 ◽  
Vol 42 (2) ◽  
pp. 104-107 ◽  
Author(s):  
Dilip Balu

The author's clinical experience with the Child Protection and Mental Health Care systems informs this brief practice-focused paper. The author posits that Secondary Traumatic Stress and Vicarious Trauma are central to understanding the impact of relationally traumatic material and the experience of individuals, families, team and the wider ecology of care systems. In particular, the author hypothesises that the tendency of systems to become fragmented in operation, with silos of sub-parts working parallel to each other, may be a natural adaptation to the ways in which traumatic experience ripples across system boundaries. This ‘ripple effect’ may lead to increasing emotional and relational reactivity, and survival-oriented inward focus of energies and efforts. The metaphor of the brain and nervous system is used to explore ideas of connection and integration in care systems. Trauma-informed leadership by individuals and teams is also touched upon in relation to reducing fear-driven clinical practice.


2015 ◽  
Vol 37 (1) ◽  
pp. 73-88
Author(s):  
Petra Baji ◽  
Márta Péntek ◽  
Imre Boncz ◽  
Valentin Brodszky ◽  
Olga Loblova ◽  
...  

In the past few years, several papers have been published in the international literature on the impact of the economic crisis on health and health care. However, there is limited knowledge on this topic regarding the Central and Eastern European (CEE) countries. The main aims of this study are to examine the effect of the financial crisis on health care spending in four CEE countries (the Czech Republic, Hungary, Poland and Slovakia) in comparison with the OECD countries. In this paper we also revised the literature for economic crisis related impact on health and health care system in these countries. OECD data released in 2012 were used to examine the differences in growth rates before and after the financial crisis. We examined the ratio of the average yearly growth rates of health expenditure expressed in USD (PPP) between 2008–2010 and 2000–2008. The classification of the OECD countries regarding “development” and “relative growth” resulted in four clusters. A large diversity of “relative growth” was observed across the countries in austerity conditions, however the changes significantly correlate with the average drop of GDP from 2008 to 2010. To conclude, it is difficult to capture visible evidence regarding the impact of the recession on the health and health care systems in the CEE countries due to the absence of the necessary data. For the same reason, governments in this region might have a limited capability to minimize the possible negative effects of the recession on health and health care systems.


Author(s):  
Stephen C. L. Gough

The increasing worldwide incidence and prevalence of diabetes is placing substantial pressures on health care systems and economies. As a consequence individuals involved in the care of people with diabetes are looking at services currently being provided and examining ways in which care can be organized in the most cost-effective manner. Whilst the degree to which diabetes care is delivered differs from country to country, similar fundamental questions are being asked by those involved in the delivery of care, including: What are we currently providing? What do we need to provide? What are we able to provide? Although the answers to these questions are quite different not just between countries but often within specific localities within a country, the ultimate aim is the same: to provide the best possible care to as many people with diabetes as possible. The global diversity of diabetes health care need is enormous and while the solutions will be equally diverse, the approach to the development of a diabetes service will, for many organizations, be similar. The main focus of this chapter is based upon the model or the strategic approach developed in the UK, but many of the individual component parts are present in most health care settings.


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