Rapid detection and prenatal diagnosis of β-thalassaemia: studies in Indian and Cypriot populations in the UK

AbstractSARS-CoV-2 variants with multiple amino acid mutations in the spike protein are emerging in different parts of the world raising concerns on their possible impact on human immune response to the virus and vaccine efficacy against them. Recently, a variant named lineage B.1.1.7 was detected and shown to be rapidly spreading across the UK since November 2020. As surveillance for these SARS-CoV-2 variants of concern (VOCs) becomes critical, we have investigated the use of environmental surveillance (ES) for the rapid detection and quantification of B.1.1.7 viruses in sewage as a way of monitoring its expansion that is independent on the investigation of identified clinical cases. B.1.1.7 mutations in viral sequences from sewage were first identified in a sample collected in London on 10th November 2020 and shown to rapidly increase in frequency to >95% in January 2021, in agreement with clinical data over the same period. We show that ES can provide an early warning of VOCs becoming prevalent in the population and that, as well as B.1.1.7, our method can potentially detect VOCs B.1.351 and P.1, first identified in South Africa and Brazil, respectively, and other viruses also carrying critical spike mutation E484K, known to have an effect on virus antigenicity.

Download Full-text

The UK control programme for the haemoglobin disorders

Fetal and Maternal Medicine Review ◽

10.1017/s0965539500001145 ◽

1994 ◽

Vol 6 (4) ◽

pp. 191-201 ◽

Cited By ~ 3

Author(s):

Mary Petrou

Keyword(s):

Prenatal Diagnosis ◽

Genetic Counselling ◽

Community Education ◽

Control Programme ◽

Beta Thalassaemia ◽

Department Of Health ◽

Populations At Risk ◽

Haemoglobin Disorders ◽

Haemoglobin S ◽

The Uk

The haemoglobin disorders are a group of recessively inherited conditions of varying severity. In the homozygous state, alpha zero thalassaemia causes hydrops fetalis, beta thalassaemia usually causes a severe transfusion-dependent anaemia and sickle cell anaemia (HbSS), haemoglobin S/C disease, haemoglobin S/D disease and haemoglobin S/beta thalassaemia cause sickling disorders ranging from quite mild to very severe. Haemoglobin disorders are among the commonest inherited diseases in the UK. Management can be very burdensome, but produces good results in many cases. The disorders can also be prevented by a programme of carrier screening, genetic counselling and prenatal diagnosis in populations at risk. The WHO has defined a “haemoglobinopathy control programme” as an integral strategy combining optimal patient care with prevention based on community education, propective carrier diagnosis, genetic counselling and the offer of prenatal diagnosis. The services required for haemoglobin disorders in the UK have recently been reviewed in a report from the Standing Medical Advisory Committee of the Department of Health. This report focuses on genetic counselling and prenatal diagnosis for haemoglobin disorders.

Download Full-text

Efficient use of sentinel sites: detection of invasive honeybee pests and diseases in the UK

Journal of The Royal Society Interface ◽

10.1098/rsif.2016.0908 ◽

2017 ◽

Vol 14 (129) ◽

pp. 20160908 ◽

Cited By ~ 4

Author(s):

Matt J. Keeling ◽

Samik Datta ◽

Daniel N. Franklin ◽

Ivor Flatman ◽

Andy Wattam ◽

...

Keyword(s):

Infectious Diseases ◽

Mathematical Modelling ◽

Spatial Model ◽

Rapid Detection ◽

Disease Outbreaks ◽

Costs And Benefits ◽

Pests And Diseases ◽

Computationally Intensive ◽

The Uk ◽

Key Questions

Sentinel sites, where problems can be identified early or investigated in detail, form an important part of planning for exotic disease outbreaks in humans, livestock and plants. Key questions are: how many sentinels are required, where should they be positioned and how effective are they at rapidly identifying new invasions? The sentinel apiary system for invasive honeybee pests and diseases illustrates the costs and benefits of such approaches. Here, we address these issues with two mathematical modelling approaches. The first approach is generic and uses probabilistic arguments to calculate the average number of affected sites when an outbreak is first detected, providing rapid and general insights that we have applied to a range of infectious diseases. The second approach uses a computationally intensive, stochastic, spatial model to simulate multiple outbreaks and to determine appropriate sentinel locations for UK apiaries. Both models quantify the anticipated increase in success of sentinel sites as their number increases and as non-sentinel sites become worse at detection; however, unexpectedly sentinels perform relatively better for faster growing outbreaks. Additionally, the spatial model allows us to quantify the substantial role that carefully positioned sentinels can play in the rapid detection of exotic invasions.

Download Full-text

Detection of SARS CoV-2 reinfections by rapid inexpensive techniques

10.21203/rs.3.rs-558215/v1 ◽

2021 ◽

Author(s):

Sherko Subhan Niranji ◽

Sirwan M.A. Al-Jaf

Keyword(s):

Developing Countries ◽

Dna Sequences ◽

Rapid Detection ◽

Phylogenetic Analyses ◽

Immunocompetent Patient ◽

Clinical Samples ◽

Specific Primers ◽

Persistent Infections ◽

The World ◽

The Uk

Abstract Reinfections of SARS CoV-2 are rare in the world and it is difficult to be confirmed whether it is a reinfection or persistent infection. The most prominent factors used for differentiating the reinfections from persistent infections are whole genome sequencings and phylogenetic analyses that require times and funds, which may not be feasible in most developing countries. We previously developed rapid economical methods to identify both D614G and N501Y mutations in clinical samples using rRT PCR probes and endpoint PCR specific primers. Current study has found an immunocompetent patient with a SARS CoV-2 N501Y reinfection without comorbidities. The results suggested that the initial infection was due to a variant contained only D614G mutation while the reinfection was potentially as result of the UK variant contained three mutations confirmed by DNA sequences, including D614G, N501Y and A570D mutations. Seven cases of reinfections were also confirmed by these methods suggested that these techniques will support rapid detection of SARS CoV-2 reinfections in developing countries where sequencing tools are unavailable.

Download Full-text