Sickle Cell Disease

JAMA, Journal Year: 2022, Volume and Issue: 328(1), P. 57 - 57

Published: July 5, 2022

Importance

Sickle cell disease (SCD) is an inherited disorder of hemoglobin, characterized by formation long chains hemoglobin when deoxygenated within capillary beds, resulting in sickle-shaped red blood cells, progressive multiorgan damage, and increased mortality. An estimated 300 000 infants are born annually worldwide with SCD. Most individuals SCD live sub-Saharan Africa, India, the Mediterranean, Middle East; approximately 100 US.

Observations

diagnosed through newborn screening programs, where available, or patients present unexplained severe atraumatic pain normocytic anemia. In SCD, sickling hemolysis cells result vaso-occlusion associated ischemia. repeated episodes acute chest syndrome, other complications including stroke, chronic pain, nephropathy, retinopathy, avascular necrosis, priapism, leg ulcers. US, nearly all children survive to adulthood, but average life expectancy remains 20 years less than general population, higher mortality as transition from pediatric adult-focused health care systems. Until 2017, hydroxyurea, which increases fetal reduces sickling, was only disease-modifying therapy available for first-line most Three additional therapies, L-glutamine, crizanlizumab, voxelotor, have been approved adjunctive second-line agents. clinical trials, L-glutamine reduced hospitalization rates 33% mean length stay 11 7 days compared placebo. Crizanlizumab crises 2.98 1.63 per year Voxelotor at least 1 g/dL, significantly more placebo (51% vs 7%). Hematopoietic stem transplant curative therapy, it limited donor availability, best results seen a matched sibling donor. While not likely develop addiction medications population.

Conclusions Relevance

people hemolytic anemia, syndrome; incidence retinopathy; span that shorter hydroxyurea voxelotor US since 2017 treatments, hematopoietic now standard disease.

Language: Английский

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Aflatoxins: Occurrence, biosynthesis, mechanism of action and effects, conventional/emerging detection techniques

Food Chemistry, Journal Year: 2023, Volume and Issue: 436, P. 137775 - 137775

Published: Oct. 15, 2023

Aflatoxins (AFs) are toxic secondary metabolites prevalent in various food and agricultural products, posing significant challenges to global safety. The detection quantification of AFs through high-precision analytical techniques crucial mitigating AF contamination levels associated health risks. Various methods, including conventional emerging techniques, have been developed for detecting quantifying samples. This review provides an in-depth analysis the occurrence commodities, covering their biosynthesis, mode action, effects on humans animals. Additionally, discusses different strategies, chromatographic immunochemical approaches, identification Furthermore, such as solid-state gas sensors electronic nose technologies, along with applications, limitations, future perspectives, were reviewed. Sample purification, respective advantages also discussed herein.

Language: Английский

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Revolutionising healing: Gene Editing's breakthrough against sickle cell disease

Blood Reviews, Journal Year: 2024, Volume and Issue: 65, P. 101185 - 101185

Published: March 7, 2024

Recent advancements in gene editing illuminate new potential therapeutic approaches for Sickle Cell Disease (SCD), a debilitating monogenic disorder caused by point mutation the β-globin gene. Despite availability of several FDA-approved medications symptomatic relief, allogeneic hematopoietic stem cell transplantation (HSCT) remains sole curative option, underscoring persistent need novel treatments. This review delves into growing field editing, particularly extensive research focused on curing haemoglobinopathies like SCD. We examine use techniques such as CRISPR-Cas9 and homology-directed repair, base prime to either correct pathogenic variant non-pathogenic or wild-type one augment fetal haemoglobin (HbF) production. The article elucidates ways optimize these tools efficacious with minimal off-target effects offers insights their effective delivery cells. Furthermore, we explore clinical trials involving alternative SCD treatment strategies, LentiGlobin therapy autologous HSCT, distilling current findings. consolidates vital information translation SCD, providing strategic investigators eager further development

Language: Английский

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Sickle Cell Disease Update: New Treatments and Challenging Nutritional Interventions

Nutrients, Journal Year: 2024, Volume and Issue: 16(2), P. 258 - 258

Published: Jan. 15, 2024

Sickle cell disease (SCD), a distinctive and often overlooked illness in the 21st century, is congenital blood disorder characterized by considerable phenotypic diversity. It comprises group of disorders, with sickle anemia (SCA) being most prevalent serious genotype. Although there have been some systematic reviews global data, worldwide statistics regarding SCD prevalence, morbidity, mortality remain scarce. In developed countries lower number patients, cutting-edge technologies led to development new treatments. However, developing settings where (SCD) more prevalent, medical management, rather than cure, still relies on use hydroxyurea, transfusions, analgesics. This that affects red cells, consequently affecting organs diverse manners. We discuss its etiology advent technologies, but aim this study understand various types nutrition-related studies involving individuals suffering from SCD, particularly Africa. The interplay environment, food, gut microbiota, along their respective genomes collectively known as microbiome, host metabolism responsible for mediating metabolic phenotypes modulating microbiota. addition, it serves purpose providing essential nutrients. Moreover, engages direct interactions homeostasis immune system, well indirect via metabolites. Nutrition interventions nutritional care are mechanisms addressing increased nutrient expenditures important aspects supportive management patients SCD. Underprivileged areas Sub-Saharan Africa should be accompanied efforts define promote Their importance key maintaining well-being quality life, especially because products limited, while native medicinal plant resources acknowledged.

Language: Английский

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Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT)

Biomolecules, Journal Year: 2025, Volume and Issue: 15(3), P. 360 - 360

Published: March 1, 2025

This article reviews the current applications of digital polymerase chain reaction (dPCR) in non-invasive prenatal testing (NIPT) and explores its potential to complement or surpass capabilities Next-Generation Sequencing (NGS) testing. The growing incidence genetic disorders maternal–fetal medicine has intensified demand for precise accessible NIPT options, which aim minimize need invasive diagnostic procedures. Cell-free fetal DNA (cffDNA), core analyte NIPT, is influenced by numerous factors such as maternal contamination, placental health, fragment degradation. dPCR, with inherent precision ability detect low-abundance targets, demonstrates robustness against these interferences. Although NGS remains gold standard due comprehensive capabilities, high costs limit widespread use, particularly resource-limited settings. In contrast, dPCR provides comparable accuracy lower complexity expense, making it a promising alternative

Language: Английский

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Significant haemoglobinopathies: A guideline for screening and diagnosis

British Journal of Haematology, Journal Year: 2023, Volume and Issue: 201(6), P. 1047 - 1065

Published: April 19, 2023

Summary Antenatal screening/testing of pregnant women should be carried out according to the guidelines National Health Service (NHS) Sickle Cell and Thalassaemia Screening Programme. Newborn screening and, when necessary, follow‐up testing referral, NHS All babies under 1 year age arriving in United Kingdom offered for sickle cell disease (SCD). Preoperative SCD patients from ethnic groups which there is a significant prevalence condition. Emergency with solubility test must always followed by definitive analysis. Laboratories performing antenatal utilise methods that are capable detecting variants quantitating haemoglobins A 2 F at cut‐off points required national programme. The laboratory ensure provisional report available within three working days sample receipt.

Language: Английский

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Assessing the Predictive Power of the Hemoglobin/Red Cell Distribution Width Ratio in Cancer: A Systematic Review and Future Directions

Medicina, Journal Year: 2023, Volume and Issue: 59(12), P. 2124 - 2124

Published: Dec. 5, 2023

: The hemoglobin (Hb)/red cell distribution width (RDW) ratio has emerged as an accessible, repeatable, and inexpensive prognostic factor that may predict survival in cancer patients. focus of this systematic review is to investigate the role Hb/RDW implications for clinical practice.

Language: Английский

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Point-of-Care Diagnostic Test for Beta-Thalassemia

Biosensors, Journal Year: 2024, Volume and Issue: 14(2), P. 83 - 83

Published: Feb. 2, 2024

Hemoglobin (Hb) disorders are among the most common monogenic diseases affecting nearly 7% of world population. Among various Hb disorders, approximately 1.5% population carries β-thalassemia (β-Thal), 40,000 newborns every year. Early screening and a timely diagnosis essential for patients prevention management later clinical complications. However, in Africa, Southern Europe, Middle East, Southeast Asia, where is prevalent, still challenging due to cost logistical burden laboratory diagnostic tests. Here, we present Gazelle, which paper-based microchip electrophoresis platform that enables first point-of-care test β-thalassemia. We evaluated accuracy Gazelle β-Thal across 372 subjects age range 4–63 years at Apple Diagnostics lab Mumbai, India. Additionally, 30 blood samples were prepared mimic intermediate major samples. Gazelle-detected levels A, F, A2 demonstrated high correlation with results reported through gold standard high-performance liquid chromatography (HPLC), yielding Pearson coefficient = 0.99. This ability obtain rapid accurate suggests may be suitable large-scale β-Thal.

Language: Английский

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A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry

PLoS ONE, Journal Year: 2023, Volume and Issue: 18(3), P. e0283024 - e0283024

Published: March 10, 2023

Early diagnosis of severe combined immunodeficiency (SCID), spinal muscular atrophy (SMA), and sickle cell disease (SCD) improves health outcomes by providing a specific treatment before the onset symptoms. A high-throughput nucleic acid-based method in newborn screening (NBS) has been shown to be fast cost-effective early detection these diseases. Screening for SCD included Germany's NBS Program since Fall 2021 typically requires laboratories adopt analytical platforms that are demanding terms instrumentation personnel. Thus, we developed approach applying multiplexed quantitative real-time PCR (qPCR) assay simultaneous SCID, SMA, 1st-tier screening, followed tandem mass spectrometry (MS/MS) 2nd-tier screening. DNA is extracted from 3.2-mm dried blood spot which simultaneously quantify T-cell receptor excision circles SCID identify homozygous SMN1 exon 7 deletion SMA determine integrity extraction through quantification housekeeping gene. In our two-tier strategy, multiplex qPCR identifies samples carrying HBB: c.20A>T allele coding hemoglobin (HbS). Subsequently, 2nd tier MS/MS used distinguish heterozygous HbS/A carriers patients with or compound SCD. Between July March 2022, 96,015 were screened newly implemented assay. The revealed two positive cases, while 14 newborns detected. Concurrently, registered HbS 431 submitted resulting 17 HbS/S, five HbS/C, HbS/β thalassemia patients. results quadruplex demonstrate three diseases benefit nucleic-acid based methods laboratories.

Language: Английский

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Diagnosis and screening of abnormal hemoglobins

Clinica Chimica Acta, Journal Year: 2023, Volume and Issue: 552, P. 117685 - 117685

Published: Nov. 27, 2023

Language: Английский

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