-
Nursing Science Quarterly Jul 2024When people with sickle cell disease in vaso-occlusive crisis need hospitalization, they often experience fragmented and disparate treatment. Racial, gender, and...
When people with sickle cell disease in vaso-occlusive crisis need hospitalization, they often experience fragmented and disparate treatment. Racial, gender, and socioeconomic treatment bias by providers, including nurses, is complicated by the current reactionary United States (US) controlled substance policies. To provide high-quality and respectful care, nurses can use Kolcaba's Comfort Theory as the framework for a holistic plan to assess, deliver individualized interventions, and evaluate outcomes for people experiencing vaso-occlusive crisis. Once in the electronic medical record, it can guide care during future hospitalizations. By refocusing on the nursing value of providing comfort care to individuals in distress, nurses can change treatment outcomes for clients.
Topics: Humans; Anemia, Sickle Cell; Nursing Theory; Patient Comfort; United States
PubMed: 38836474
DOI: 10.1177/08943184241247080 -
Pediatrics Jul 2024
Topics: Humans; Anemia, Sickle Cell; Child; Early Medical Intervention; Health Equity; Healthcare Disparities
PubMed: 38836305
DOI: 10.1542/peds.2023-065090 -
Analytica Chimica Acta Jul 2024Hemoglobin (Hb) is an important protein in red blood cells and a crucial diagnostic indicator of diseases, e.g., diabetes, thalassemia, and anemia. However, there is a...
BACKGROUND
Hemoglobin (Hb) is an important protein in red blood cells and a crucial diagnostic indicator of diseases, e.g., diabetes, thalassemia, and anemia. However, there is a rare report on methods for the simultaneous screening of diabetes, anemia, and thalassemia. Isoelectric focusing (IEF) is a common separative tool for the separation and analysis of Hb. However, the current analysis of IEF images is time-consuming and cannot be used for simultaneous screening. Therefore, an artificial intelligence (AI) of IEF image recognition is desirable for accurate, sensitive, and low-cost screening.
RESULTS
Herein, we proposed a novel comprehensive method based on microstrip isoelectric focusing (mIEF) for detecting the relative content of Hb species. There was a good coincidence between the quantitation of Hb via a conventional automated hematology analyzer and the one via mIEF with R = 0.9898. Nevertheless, our results showed that the accuracy of disease diagnosis based on the quantification of Hb species alone is as low as 69.33 %, especially for the simultaneous screening of multiple diseases of diabetes, anemia, alpha-thalassemia, and beta-thalassemia. Therefore, we introduced a ResNet1D-based diagnosis model for the improvement of screening accuracy of multiple diseases. The results showed that the proposed model could achieve a high accuracy of more than 90 % and a good sensitivity of more than 96 % for each disease, indicating the overwhelming advantage of the mIEF method combined with deep learning in contrast to the pure mIEF method.
SIGNIFICANCE
Overall, the presented method of mIEF with deep learning enabled, for the first time, the absolute quantitative detection of Hb, relative quantitation of Hb species, and simultaneous screening of diabetes, anemia, alpha-thalassemia, and beta-thalassemia. The AI-based diagnosis assistant system combined with mIEF, we believe, will help doctors and specialists perform fast and precise disease screening in the future.
Topics: Humans; Isoelectric Focusing; Diabetes Mellitus; Deep Learning; Thalassemia; Anemia; Hemoglobins; Adult
PubMed: 38834281
DOI: 10.1016/j.aca.2024.342696 -
Frontiers in Public Health 2024Sickle cell disease (SCD) is an inherited autosomal recessive disorder exhibiting a range of symptoms and acute and/or chronic complications that affect the quality of...
BACKGROUND
Sickle cell disease (SCD) is an inherited autosomal recessive disorder exhibiting a range of symptoms and acute and/or chronic complications that affect the quality of life. This study aimed to assess health-related quality of life (HRQoL) and to identify the associated factors in adult patients with SCD in France.
METHODS
DREPAtient is a cross-sectional, multicenter study conducted from June 2020 to April 2021 in France and in certain French overseas territories where SCD is highly prevalent. Sociodemographic and clinical data were collected online. HRQoL was assessed by the French version of the 36-Item Short Form Survey (SF-36) questionnaire. HRQoL determinants were identified using multivariable linear regression analysis.
RESULTS
In total, 570 participants were included, mostly women (68.9%), with a mean age of 33.3 (±10.7) years. The highest mean score HRQoL was found in the Physical functioning domain (67.5 ± 21.8) and the lowest mean score in the General Health perception domain (37.7 ± 20.3). The mean score of the physical composite (PCS) and mental composite (MCS) of SF-36 summary scores was 40.6 ± 8.9 and 45.3 ± 9.8, respectively. Participants receiving oxygen therapy ( = -3.20 [95%CI: -5.56; -0.85]), those with a history of femoral osteonecrosis (-3.09 [-4.64; -1.53]), those hospitalized for vaso-occlusive crisis (VOC) or acute chest syndrome (ACS) (-2.58 [-3.93; -1.22]), those with chronic complications (-2.33 [-4.04; -0.62]), female participants (-2.17 [-3.65; -0.69]), those with psychological follow-up (-2.13 [-3.59; -0.67]), older participants (-1.69 [-3.28; -0.09]), and those receiving painkillers (-1.61 [-3.16; -0.06]) reported worse PCS score. By contrast, those who had completed secondary or high school (4.36 [2.41; 6.31]) and those with stable financial situation (2.85 [0.94, 4.76]) reported better PCS scores. Worse MCS scores were reported among participants with psychological follow-up (-2.54 [-4.28; -0.80]) and those hospitalized for VOC/ACS in the last 12 months (-2.38 [-3.99; -0.77]), while those who had relatives' support (5.27 [1.92; 8.62]) and those with stable financial situation (4.95 [2.65; 7.26]) reported better MCS scores.
CONCLUSION
Adults with major SCD reported poor physical and mental HRQoL scores. Hospitalization for VOC/ACS, chronic complications, use of painkillers, perceived financial situation, and support from relatives are important predictors of HRQoL in SCD patients. Interventions to improve HRQoL outcomes SCD should be considered.
Topics: Humans; Female; Quality of Life; Anemia, Sickle Cell; Male; France; Adult; Cross-Sectional Studies; Surveys and Questionnaires; Middle Aged; Young Adult
PubMed: 38832226
DOI: 10.3389/fpubh.2024.1374805 -
Hemoglobin Jun 2024Congenital hemolytic anemia (CHA) is defined as the premature destruction of red blood cells (RBC) due to congenital or acquired defects. The hereditary form of...
Congenital hemolytic anemia (CHA) is defined as the premature destruction of red blood cells (RBC) due to congenital or acquired defects. The hereditary form of hemolytic anemia can be divided into hemoglobinopathies, membranopathies, and enzymopathies. Hereditary spherocytosis (HS) is the most common inherited RBC membranopathy leading to congenital hemolytic anemia. To date; five genes have been associated with HS coding for cytoskeleton and transmembrane proteins, those genes are and . Due to genetic heterogeneity, clinical exome sequencing (CES) was performed on four unrelated Moroccan patients referred for CHA investigation. Sanger sequencing and qPCR were performed to confirm CES results and to study the de novo character of identified variants. The molecular analysis revealed 3 novel mutations and one previously reported pathogenic variant of the gene confirming the diagnosis of HS in the four patients. Hereditary spherocytosis anemia is a genetically heterogenous disease which could be misdiagnosed clinically. The introduction of novel sequencing technologies can facilitate accurate genetic diagnosis, allowing an adapted care of the patient and his family.
PubMed: 38831725
DOI: 10.1080/03630269.2024.2360456 -
Journal of Blood Medicine 2024Human hemoglobin of G-Makassar and hemoglobin E (Hb E) are hemoglobin variants that affect Beta (β) globin. Hb G-Makassar is a very rare variant while Hb E is estimated...
BACKGROUND
Human hemoglobin of G-Makassar and hemoglobin E (Hb E) are hemoglobin variants that affect Beta (β) globin. Hb G-Makassar is a very rare variant while Hb E is estimated to affect at least one million people worldwide. Both Hb G-Makassar and Hb E can be inherited in the heterozygous, homozygous or compound heterozygous state. This case series describes the characteristics of four individuals with compound heterozygosity for Hb G-Makassar/Hb E cases in Malaysia. To the best of our knowledge, these are the only four individuals with this genotype reported in the literature.
CASE SERIES
We present four cases of compound heterozygosity for Hb G-Makassar/Hb E identified from October 2014 to January 2021. All the cases were incidental findings whereby the screening Hb analysis showed the presence of peaks in both Hb S and Hb E zones on capillary electrophoresis (CE) and cation-exchange high-performance liquid chromatography (HPLC). Molecular analysis confirmed the findings of compound heterozygous Hb G-Makassar/Hb E. Two cases had a history of anemia secondary to unrelated conditions that resolved with treatment of the underlying cause. The other two cases were asymptomatic individuals who were detected through Malaysia's National Thalassemia Screening program. On the last follow-up, all the individuals were well, non-transfusion dependent, and had no reported history of chronic anemia, bleeding, hemolysis or thromboembolism complications.
CONCLUSION
The cases reported here highlight the possibilities for rare compound heterozygous states in multi-ethnicity populations such as Malaysia. Compound heterozygous Hb G-Makassar/Hb E individuals are clinically silent with laboratory values suggesting microcytic and hypochromic red blood cells. Further local epidemiology or population studies with genotyping tests are required for a better understanding of the diversity of its clinical phenotype.
PubMed: 38828362
DOI: 10.2147/JBM.S432849 -
Journal of Musculoskeletal & Neuronal... Jun 2024
Topics: Humans; beta-Thalassemia; Bone Density Conservation Agents; Osteoporosis; Review Literature as Topic
PubMed: 38825992
DOI: No ID Found -
Biomedicine & Pharmacotherapy =... Jul 2024Sickle cell disease (SCD) is the most severe monogenic hemoglobinopathy caused by a single genetic mutation that leads to repeated polymerization and depolymerization of... (Review)
Review
Sickle cell disease (SCD) is the most severe monogenic hemoglobinopathy caused by a single genetic mutation that leads to repeated polymerization and depolymerization of hemoglobin resulting in intravascular hemolysis, cell adhesion, vascular occlusion, and ischemia-reperfusion injury. Hemolysis causes oxidative damage indirectly by generating reactive oxygen species through various pathophysiological mechanisms, which include hemoglobin autoxidation, endothelial nitric oxide synthase uncoupling, reduced nitric oxide bioavailability, and elevated levels of asymmetric dimethylarginine. Red blood cells have a built-in anti-oxidant system that includes enzymes like sodium dismutase, catalase, and glutathione peroxidase, along with free radical scavenging molecules, such as vitamin C, vitamin E, and glutathione, which help them to fight oxidative damage. However, these anti-oxidants may not be sufficient to prevent the effects of oxidative stress in SCD patients. Therefore, in line with a recent FDA request that the focus to be placed on the development of innovative therapies for SCD that address the root cause of the disease, there is a need for therapies that target oxidative stress and restore redox balance in SCD patients. This review summarizes the current state of knowledge regarding the role of oxidative stress in SCD and the potential benefits of anti-oxidant therapies. It also discusses the challenges and limitations of these therapies and suggests future directions for research and development.
Topics: Anemia, Sickle Cell; Humans; Oxidative Stress; Antioxidants; Animals; Reactive Oxygen Species
PubMed: 38823275
DOI: 10.1016/j.biopha.2024.116849 -
BMC Public Health May 2024Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a collection of inherited blood disorders that impact millions globally, with a predominant 75% occurrence in the sub-Saharan region. With increasing burden of SCD on the continent amidst a cost effective prevention method, no study has systematically reviewed or presented meta-analytic uptake or practice of premarital sickle cell trait screening.
METHODS
This review systematically explored the uptake or practice of premarital genotype screening in Africa. We searched PubMed and Scopus databases for African studies on premarital screening for sickle cell traits.
RESULTS
Our results indicate that the pooled uptake of premarital sickle cell trait screening in Africa is 47.82% (95% CI: [46.53-49.11]; I: 98.95% [98.74-99.13]). Our review observed, a significant relationship between the awareness of sickle cell disease and the uptake of genotype screening; F(1, 13) = 12.04, p = 0.004). The model explained approximately 48.08% of the variation in genotype screening (R² = 0.4808) and predicted a 0.729 increase in the likelihood of genotype screening uptake for every unit rise in sickle cell disease awareness (β = 0.729, p = 0.004). Additionally, Pearson correlation (r = 0.6934) indicated a moderately strong positive correlation between the two variables.
CONCLUSION
With over 75% of the global burden of sickle cell disease domiciled in Africa, the continent cannot overlook the cost of hemoglobinopathies. The uptake of sickle cell traits screening is suboptimal across the continent. To achieve the mandate of sustainable development goal number (3); to end preventable deaths of newborns and children under 5 years of age by 2030, there is need to intensify campaigns on premarital genetic screening through education and other health promotion tools.
Topics: Humans; Sickle Cell Trait; Africa; Anemia, Sickle Cell; Premarital Examinations; Mass Screening; Genetic Testing
PubMed: 38822327
DOI: 10.1186/s12889-024-19001-y -
NeoReviews Jun 2024
Topics: Humans; Female; Abnormalities, Multiple; Hematologic Diseases; Vestibular Diseases; Face; Hydrops Fetalis; Pregnancy; Heart Defects, Congenital; Ultrasonography, Prenatal; Adult
PubMed: 38821912
DOI: 10.1542/neo.25-6-e385